consanguinity

Summary

Summary: The magnitude of INBREEDING in humans.

Top Publications

  1. pmc Genomic runs of homozygosity record population history and consanguinity
    Mirna Kirin
    Centre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 5:e13996. 2010
  2. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
  3. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
  4. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
  6. ncbi Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
  7. doi Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
    Hanan Hamamy
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, Geneva, Switzerland
    Genet Med 13:841-7. 2011
  8. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  9. ncbi Influence of parental and socioeconomic factors on stunting in children under 5 years in Egypt
    L K Zottarelli
    Texas Woman s University, Texas, USA
    East Mediterr Health J 13:1330-42. 2007
  10. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012

Research Grants

  1. CANCER IN THE JERUSALEM PERINATAL STUDY COHORT
    Susan Harlap; Fiscal Year: 2002
  2. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2005
  3. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2003
  4. A Collaborative search for new genes for non-syndromic deafness
    Mustafa Tekin; Fiscal Year: 2010
  5. RETINITIS PIGMENTOSA IN INDIA: MOLECULAR GENETIC STUDI*
    Chitra Kannabiran; Fiscal Year: 2004
  6. Patient-Oriented Research in Recessive Pediatric Brain Diseases
    Joseph Gleeson; Fiscal Year: 2007
  7. JERUSALEM PERINATAL COHORT SCHIZOPHRENIA STUDY
    Dolores Malaspina; Fiscal Year: 2006
  8. Human Epilepsy Genetics Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2007
  9. MOLECULAR GENETICS OF HEREDITARY GLAUCOMA
    Val Sheffield; Fiscal Year: 2004
  10. Molecular Genetics of Glaucoma
    Val C Sheffield; Fiscal Year: 2010

Detail Information

Publications278 found, 100 shown here

  1. pmc Genomic runs of homozygosity record population history and consanguinity
    Mirna Kirin
    Centre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 5:e13996. 2010
    ..populations have experienced a wide range of demographic histories and hold diverse cultural attitudes to consanguinity. In a global population dataset, genome-wide analysis of long and shorter ROH allows categorisation of the ..
  2. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
    ..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...
  3. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  4. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
    ..These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone...
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
    ..Although TPRN is expressed in many tissues, immunolocalization of the protein product in the mouse cochlea shows prominent expression in the taper region of hair cell stereocilia. Consequently, we named the protein taperin...
  6. ncbi Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
    ..The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice...
  7. doi Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
    Hanan Hamamy
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, Geneva, Switzerland
    Genet Med 13:841-7. 2011
    ..A consanguinity study group of international experts and counselors met at the Geneva International Consanguinity Workshop ..
  8. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  9. ncbi Influence of parental and socioeconomic factors on stunting in children under 5 years in Egypt
    L K Zottarelli
    Texas Woman s University, Texas, USA
    East Mediterr Health J 13:1330-42. 2007
    ..Parental consanguinity, rural residence, high birth order and short birth interval significantly increased the odds of stunting...
  10. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012
    ..The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies...
  11. pmc A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
    Anneke I den Hollander
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 50:1864-72. 2009
    ..This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration...
  12. doi The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients
    Dikla Bandah
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Arch Ophthalmol 127:297-302. 2009
    ..To evaluate the involvement of NR2E3 in inherited retinal degenerative diseases in the Israeli and Palestinian populations and to study phenotypic variability in patients who are homozygous for the same mutation...
  13. ncbi Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families
    S Laradi
    Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    J Inherit Metab Dis 28:1019-26. 2005
    ..The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists.
  14. ncbi Consanguinity and advanced maternal age as risk factors for reproductive losses in Alexandria, Egypt
    M M Mokhtar
    Department of Huiman Genetics, Medical Research Institute, Alexandria University, Egypt
    Eur J Epidemiol 17:559-65. 2001
    BACKGROUND: Consanguinity has been a long-standing social habit among Egyptians. Estimates of consanguinity ratios in different parts of Egypt ranged from 29 to 50%...
  15. ncbi Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
    K Mykytyn
    Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, 52242, USA
    Nat Genet 28:188-91. 2001
    ..The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4...
  16. pmc CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
    R Sitorus
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Germany
    J Med Genet 40:e9. 2003
  17. ncbi A new era for preventive genetic programs in the Arabian Peninsula
    Ali N Al-Odaib
    Department of Genetics Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 24:1168-75. 2003
    ..These preventive measures must take into account the social and cultural aspects...
  18. ncbi Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 48:5690-8. 2007
    ..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes...
  19. pmc Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
    Tom Walsh
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:90-4. 2010
    ..Identification of GPSM2 as essential to the development of normal hearing suggests dysregulation of cell polarity as a mechanism underlying hearing loss...
  20. pmc Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
    Steven E Boyden
    Program in Genomics, Division of Genetics, Children s Hospital Boston, Boston, MA, USA
    Neurogenetics 11:449-55. 2010
    ..Our data demonstrate that homozygosity mapping in consanguineous pedigrees offers a more efficient means of discovering mutations that cause heterogeneous disorders than comprehensive sequencing of known candidate genes...
  21. ncbi Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil
    Isabel Cristina Gonçalves Leite
    Department of Collective Health, School of Medicine, Federal University of Juiz de Fora, Minas Gerais, Brazil
    Braz Oral Res 23:31-7. 2009
    ..case-control study investigated the possible associations between family history of malformations, parental consanguinity, smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft ..
  22. doi Pedigree reconstruction using identity by descent
    Bonnie Kirkpatrick
    Electrical Engineering and Computer Sciences, University of California, Berkeley, California 94720, USA
    J Comput Biol 18:1481-93. 2011
    ..The two programs are available at http://cop.icsi.berkeley.edu/cop/...
  23. doi An association between the kinship and fertility of human couples
    Agnar Helgason
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Science 319:813-6. 2008
    ....
  24. ncbi Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness
    Saida Ben Arab
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Sfax, Tunisie
    Genet Epidemiol 27:74-9. 2004
    ..geographic isolation, social traditions, and parental involvement in mode selection all contribute to increase consanguinity in these regions...
  25. doi Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Neurogenetics 13:73-6. 2012
    ..The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability...
  26. pmc Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
    Latifa Chkioua
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia
    Diagn Pathol 6:113. 2011
    ....
  27. pmc A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family
    Anan H Abbasi
    Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Mol Vis 14:675-82. 2008
    ..To investigate the genetic basis for autosomal recessive severe early-onset retinitis pigmentosa (RP) in a consanguineous Israeli Muslim Arab family...
  28. doi Homozygosity mapping: one more tool in the clinical geneticist's toolbox
    Fowzan S Alkuraya
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Genet Med 12:236-9. 2010
    b>Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state...
  29. pmc Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases
    A H Bittles
    Centre for Comparative Genomics, Murdoch University, South Street, Perth WA 6150, Australia
    Proc Natl Acad Sci U S A 107:1779-86. 2010
    ..Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity...
  30. doi Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia
    S Khedhiri
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia
    Pathol Biol (Paris) 57:392-7. 2009
    ..In the Hurler disease, the nervous system is particularly affected while in Morquio a disease, a skeletal dysplasia and a normal intelligence are characteristic...
  31. ncbi A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia
    Nadia M Fida
    Department of Pediatrics, King Abdulaziz University Hospital, PO Box 80215, Jeddah 21589, Kingdom of Saudi Arabia
    Saudi Med J 28:1367-73. 2007
    ..To estimate the incidence of major and minor congenital malformations among liveborn infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors were also evaluated...
  32. ncbi Strategies for the prevention of hereditary diseases in a highly consanguineous population
    B F Meyer
    Aragene Laboratory, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Ann Hum Biol 32:174-9. 2005
    Autosomal recessive hereditary diseases are relatively common in the Saudi population. The consanguinity rate is in excess of 50% and is a practice that remains strongly embedded within Saudi culture...
  33. ncbi Epidemiology of cleft lip and cleft palate in Pakistan
    Mohammed Mehboob Elahi
    Division of Plastic and Reconstructive Surgery, Temple University, 1600 Arch Street, Suite 508, Philadelphia, PA 19103, USA
    Plast Reconstr Surg 113:1548-55. 2004
    ..It is hoped that this information can be used for appropriate resource use, cleft lip and cleft palate prevention programs, and counseling programs with Pakistan-specific data...
  34. doi Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Ophthalmology 115:2262-5. 2008
    ..To document the phenotype and determine the genotype of a child with synergistic convergence...
  35. ncbi Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: a hospital-based study
    Bahauddin I Sallout
    Women s Specialized Hospital and the Maternal Fetal Medicine and Ultrasound Unit, King Fahad Medical City, Riyadh, Saudi Arabia
    Ann Saudi Med 28:272-6. 2008
    ....
  36. pmc A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
    Ganeshwaran H Mochida
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 85:897-902. 2009
    ..This suggests essential roles of TRAPPC9 in human brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex...
  37. pmc A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    Jean Pierre de Villartay
    Developpement Normal et Pathologique du Systeme Immunitaire, INSERM U429, Paris, France
    J Clin Invest 115:3291-9. 2005
    ..This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype...
  38. ncbi Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    S Riazuddin
    Laboratory of Molecular Genetics, NIDCD NIH, Rockville, Maryland, USA
    Nat Genet 26:431-4. 2000
    ..A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815...
  39. pmc Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
    S Brickwood
    J Med Genet 40:685-9. 2003
  40. pmc The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Centre, Beilinson Campus, Petah Tikva 49100, Israel
    J Med Genet 43:203-10. 2006
    ..Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family...
  41. ncbi A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
    M A Maw
    Biochemistry Department, University of Otago, PO Box 56, Dunedin, New Zealand
    Hum Mol Genet 9:27-34. 2000
    ..These findings suggest that loss of prominin causes retinal degeneration, possibly because of impaired generation of the evaginations and/or impaired conversion of the evaginations to disks...
  42. pmc A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
    Mohammad Mahdi Motazacker
    Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Hum Genet 81:792-8. 2007
    ....
  43. pmc Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Am J Hum Genet 78:889-96. 2006
    ..imply that prolonged parental inbreeding has led to a background level of homozygosity increased approximately 5% over and above that predicted by simple models of consanguinity. This has important clinical and research implications.
  44. ncbi Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
    Suad Alfadhli
    Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470 Sulaibekhat, Kuwait
    Am J Ophthalmol 141:512-6. 2006
    ..To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG)...
  45. pmc Mutation survey of known LCA genes and loci in the Saudi Arabian population
    Yumei Li
    Departments of Molecular and Human Genetics
    Invest Ophthalmol Vis Sci 50:1336-43. 2009
    ..The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia...
  46. ncbi Consanguinity and congenital heart disease in Saudi Arabia
    S M Becker
    Epidemiology Section, King Faisal Specialist Hospital and Research Center, MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    Am J Med Genet 99:8-13. 2001
    ..Data on first-cousin consanguinity and type of CHD diagnosis were collected...
  47. ncbi Regional variations in the prevalence of consanguinity in Saudi Arabia
    Mohammad I El-Mouzan
    Department of Pediatrics, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
    Saudi Med J 28:1881-4. 2007
    To report on the prevalence of consanguinity in each region of the Kingdom of Saudi Arabia including the variation in prevalence between urban and rural settlements.
  48. doi A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
    M Jelani
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Clin Genet 74:184-8. 2008
    ..659-660delTA) causing frameshift and downstream premature termination codon. All the three mutations identified in the LIPH gene, including the one in this study, are deletion mutations...
  49. pmc The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
    Lynn Petukhova
    Department of Dermatology, School of Public Health, Columbia University, New York, N Y 10032, USA
    Hum Hered 68:117-30. 2009
    ..We suggest that the validity of the IBD assumption may be challenged in large consanguineous families...
  50. doi Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
    Sibel Ugur Iseri
    Department of Physiology, Anatomy, and Genetics, University of Oxford, Le Gros Clark Building, South Parks Rd, Oxford, OX1 3QX, UK
    Hum Genet 128:51-60. 2010
    ..A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2...
  51. pmc Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island
    Stuart Macgregor
    Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Eur J Hum Genet 18:67-72. 2010
    ..In conclusion, both founder effect and extreme admixture have substantially influenced the genetic architecture of a variety of CVD-related traits in this population...
  52. doi A homozygous mutation in LTBP2 causes isolated microspherophakia
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India
    Hum Genet 128:365-71. 2010
    ..Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens...
  53. doi Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
    Ian M Carr
    Division of Molecular and Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Hum Mutat 30:1642-9. 2009
    ..SAMPLE is available at http://dna.leeds.ac.uk/sample/...
  54. ncbi Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan
    M Hashemipour
    Isfahan Endocrine and Metabolism Research Centre, Isfahan, Islamic Republic of Iran
    East Mediterr Health J 13:567-74. 2007
    ..There was a significant association between parental consanguinity and congenital hypothyroidism (P = 0...
  55. pmc Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
    E Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark
    J Med Genet 47:665-9. 2010
    ..It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance...
  56. doi Genetics of primary glaucoma
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Curr Opin Ophthalmol 22:347-55. 2011
    ..To provide an overview of the genetics of the primary open-angle glaucomas with particular attention to congenital, infantile, and juvenile forms...
  57. ncbi Consanguineous marriage in Iran
    M Saadat
    Department of Biology, College of Sciences, Shiraz University, Iran
    Ann Hum Biol 31:263-9. 2004
    ..The aim of the present study was to determine the current prevalence and patterns of consanguinity in Iran as a means of assessing the associated requirement for genetic counselling services...
  58. doi Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
    Rahima Mostefai
    Department of Pediatric Dermatology National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 146:2762-9. 2008
    ..It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome...
  59. ncbi Endogamy, consanguinity and community genetics
    A H Bittles
    Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth, WA 6027, Australia
    J Genet 81:91-8. 2002
    ..In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians and social scientists...
  60. doi A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
    Inbal Lasry
    The Fred Wyszkowski Cancer Research Laboratory, Department of Biology, Technion Israel Institute of Technology, Haifa, Israel
    Blood 112:2055-61. 2008
    ..These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport...
  61. ncbi Parental consanguinity increases congenital heart diseases in South India
    Smitha Ramegowda
    Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Mysore, India
    Ann Hum Biol 33:519-28. 2006
    ..08 per 1000 live births. One of the risk factors for the occurrence of CHDs is parental consanguinity, in particular first-cousin marriage between parents.
  62. ncbi Parental consanguinity and congenital heart malformations in a developing country
    Mona M Nabulsi
    Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
    Am J Med Genet A 116:342-7. 2003
    The association between isolated congenital heart defects and consanguinity was examined in 759 Lebanese patients with different types of congenital heart malformations...
  63. ncbi Science and society: genetic counselling and customary consanguineous marriage
    Bernadette Modell
    Royal Free and University College Medical School, Highgate Hill, London N19 5LW, UK
    Nat Rev Genet 3:225-9. 2002
    ....
  64. pmc A gene for Meckel syndrome maps to chromosome 11q13
    J Roume
    Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
    Am J Hum Genet 63:1095-101. 1998
    ..Our observation gives support to the clinical and genetic heterogeneity of MKS...
  65. ncbi Cardiovascular risk factors and relatedness in an Icelandic subpopulation
    B J Eldon
    Institute of Biology, University of Iceland, Reykjavik
    Int J Circumpolar Health 60:499-502. 2001
    ..The results suggest absence of inbreeding depression with exception of HDL cholesterol...
  66. pmc Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families
    Oscar Rubio-Cabezas
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter EX2 5DW, United Kingdom
    J Clin Endocrinol Metab 94:4162-70. 2009
    ..We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes...
  67. pmc Acromesomelic dysplasia Maroteaux type maps to human chromosome 9
    S G Kant
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Am J Hum Genet 63:155-62. 1998
    ....
  68. doi Does consanguinity lead to decreased incidence of breast cancer?
    Abdulbari Bener
    Dept of Medical Statistics and Epidemiology, Hamad Medical Corporation, Qatar
    Cancer Epidemiol 34:413-8. 2010
    In the Middle East region, consanguinity remains to be a central feature where it has shown an increasing trend...
  69. ncbi Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32
    A Wali
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Clin Genet 72:23-9. 2007
    ..35 cM flanked by markers D13S325 and D13S1231 according to the Rutgers combined linkage-physical map. This region contains 24.41 Mb according to the build 36 of the human genome sequence-based physical map...
  70. doi Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency
    Claire Rivoisy
    Department of Clinical Immunology, Hopital Saint Louis, Assistance Publique Hôpitaux de Paris and Université Paris Diderot, Sorbonne Paris Cité, EA3963, Paris, France
    J Clin Immunol 32:98-105. 2012
    ..Patients with demonstrated parental consanguinity (cCVID group) were compared to patients without parental consanguinity (ncCVID)...
  71. ncbi Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity
    Abdullah Salem Al-Jarallah
    Division of Pediatric Cardiology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Med Sci Monit 15:CR409-12. 2009
    It is speculated that parents' consanguinity status effects the pattern of congenital heart defects (CHDs)...
  72. ncbi APOE2 and consanguinity: a risky combination for Alzheimer's disease
    M Kaur
    Department of Biotechnology, Punjabi University, Patiala 147 002, Punjab, India
    J Alzheimers Dis 8:293-7. 2005
    To investigate the association between APOE genotypes and Alzheimer's disease (AD) in elderly Indian subjects. The study also aims at the identification of consanguinity as disease risk factor for AD.
  73. pmc Association among education level, occupation status, and consanguinity in Tunisia and Croatia
    Emna Kerkeni
    Genetics Laboratory, Medical Faculty of Monastir, Monastir, Tunisia
    Croat Med J 47:656-61. 2006
    To investigate the association between education level, occupation status (a proxy for socio-economic status), and consanguinity in 2 large data sets from Tunisia and Croatia countries with different attitudes toward consanguinity.
  74. ncbi An insight into recent consanguinity within the Basque area in Spain. Effects of autochthony, industrialization and demographic changes
    M A Alfonso-Sanchez
    Universidad del Pais Vasco, Bilbao, Spain
    Ann Hum Biol 28:505-21. 2001
    ..However, only a few surveys have aimed to learn about the impact of industrial development on the consanguinity of these populations and even those have concentrated on industrialized regions...
  75. pmc Consanguinity and the risk of congenital heart disease
    Joseph T C Shieh
    Division of Medical Genetics, Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA
    Am J Med Genet A 158:1236-41. 2012
    ..Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth ..
  76. ncbi A locus for hereditary hypotrichosis localized to human chromosome 18q21.1
    Muhammad Arshad Rafique
    Department of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Eur J Hum Genet 11:623-8. 2003
    ..The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis...
  77. ncbi Inbreeding effects on metrical phenotypes among North Indian Children
    - Badaruddoza
    Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India
    Coll Antropol 28:311-9. 2004
    ..The results of the present work have thrown light on the nature and mechanism of genetic effects of inbreeding on certain quantitative traits in human...
  78. ncbi Inbreeding levels and consanguinity structure in the Basque province of Guipúzcoa (1862-1980)
    Miguel A Alfonso-Sanchez
    Departamento de Genética y Antropología Física, Facultad de Ciencias, Universidad del Pais Vasco, 48080 Bilbao, Spain
    Am J Phys Anthropol 127:240-52. 2005
    This work analyzes the spatial heterogeneity of consanguinity in the Basque province of Guipúzcoa (Spain), using data provided by Catholic dispensations (1862-1980)...
  79. ncbi Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
    S Khaliq
    Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
    Invest Ophthalmol Vis Sci 42:2225-8. 2001
    ..All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens...
  80. pmc Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study
    Marieke E Teeuw
    Department of Clinical Genetics, Section Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    BMC Med Genet 11:113. 2010
    ....
  81. ncbi Parental consanguinity in specific types of congenital anomalies
    M Rittler
    Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects (ECLAMC, , Buenos Aires, Argentina
    Am J Med Genet 102:36-43. 2001
    Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and their effects on genetic syndromes or birth defects in general...
  82. ncbi Consanguineous marriages and their effects on common adult diseases: studies from an endogamous population
    Abdulbari Bener
    Department of Medical Statistics and Epidemiology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar
    Med Princ Pract 16:262-7. 2007
    The aim of the study was to determine the extent and nature of consanguinity in the Qatari population and its effects on common adult diseases.
  83. ncbi Consanguinity: implications for practice, research, and policy
    Ahmad S Teebi
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, ON M5G 1X8, Canada
    Lancet 367:970-1. 2006
  84. ncbi Consanguinity and genetic disorders. Profile from Jordan
    Hanan A Hamamy
    National Center for Diabetes, Endocrinology and Genetics, Department of Pediatrics, Jordan University Hospital, Amman, Jordan
    Saudi Med J 28:1015-7. 2007
    ..of all marriages occurring between first cousins, increasing attention in Jordan is now given to role of consanguinity in the occurrence of genetic diseases...
  85. ncbi The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    H Mandel
    Metabolic Disease Unit, Department of Pediatrics, Rambam Medical Center, Technion Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Nat Genet 29:337-41. 2001
    ..The association of mtDNA depletion with mutated DGUOK suggests that the salvage-pathway enzymes are involved in the maintenance of balanced mitochondrial dNTP pools...
  86. doi Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
    S Khan
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University Islamabad, Pakistan
    Clin Exp Dermatol 36:652-4. 2011
    ..This form of hair loss results from mutations in either LPAR6 or LIPH gene...
  87. pmc Consanguinity and birth defects in the jerusalem perinatal study cohort
    S Harlap
    Department of Psychiatry, New York University School of Medicine, New York, NY 10017, USA
    Hum Hered 66:180-9. 2008
    While parental consanguinity is known to increase the risk of birth defects in offspring, it is hard to quantify this risk in populations where consanguinity is prevalent.
  88. ncbi Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn
    Magda Lahorgue Nunes
    Division of Neurology, Hospital Sao Lucas, PUCRS School of Medicine, Porto Alegre RS, Brazil
    J Child Neurol 17:222-4. 2002
    ..The patient died at age 26 days. Pyridoxine-dependent seizures, when recognized early and treated, have a more favorable prognosis. However, hypophosphatasia detected at birth almost always has a lethal outcome...
  89. doi Consanguinity in Qatar: knowledge, attitude and practice in a population born between 1946 and 1991
    A L Sandridge
    Shafallah Medical Genetics Center, Doha, Qatar
    J Biosoc Sci 42:59-82. 2010
    From March 2007 to March 2008 a cross-sectional study was conducted in Qatar to estimate the prevalence of consanguinity among Qataris and to assess their knowledge of the risks and their attitudes towards the practice...
  90. pmc Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
    E Roberts
    Molecular Medicine Unit, University of Leeds, Leeds, UK
    J Med Genet 39:718-21. 2002
    ..However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated...
  91. ncbi Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients
    Atchayaram Nalini
    Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
    J Child Neurol 19:447-52. 2004
    ..b>Consanguinity was present in 51.2% of cases. The male-to-female ratio was 23:17...
  92. ncbi Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait
    K Bjerrum
    University Eye Department, Rigshospitalet, Copenhagen, Denmark
    Acta Ophthalmol (Copenh) 69:630-4. 1991
    ..A possible explanation for these buphthalmic changes and their relation to lens luxation taking place very early in life is proposed. The importance of early diagnosis and treatment is discussed...
  93. pmc A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
    - Huqun
    Department of Respiratory Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350 0495, Japan
    BMC Bioinformatics 11:S5. 2010
    ..Our procedure will accelerate the identification of disease-causing genes using high-density SNP array data...
  94. ncbi Inheritance patterns, consanguinity & risk for asthma
    Bijanzadeh Mahdi
    Department of Studies in Zoology, University of Mysore, J S S Medical College, J S S Hospital, Mysore, India
    Indian J Med Res 132:48-55. 2010
    ....
  95. pmc Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?
    Anne Louise Leutenegger
    INSERM, U946, Paris, France
    Eur J Hum Genet 19:583-7. 2011
    ..There are thus some regional trends but there are also some important differences between populations within a region. Individual results can be found on the CEPH website at ftp://ftp.cephb.fr/hgdp_hbd/...
  96. pmc Consanguinity and increased risk for schizophrenia in Egypt
    Hader Mansour
    Department of Psychiatry, University of Pittsburgh School of Medicine, Western Psychiatric Institute and Clinic, Pittsburgh, PA 15213, USA
    Schizophr Res 120:108-12. 2010
    b>Consanguinity has been suggested as a risk factor for psychoses in some Middle Eastern countries, but adequate control data are unavailable...
  97. pmc Consanguinity mapping of congenital heart disease in a South Indian population
    Tracy L McGregor
    Department of Pediatrics, Vanderbilt University School of Medicine and the Monroe Carell Jr Children s Hospital at Vanderbilt, Nashville, Tennessee, United States of America
    PLoS ONE 5:e10286. 2010
    Parental consanguinity is a risk factor for congenital heart disease (CHD) worldwide, suggesting that a recessive inheritance model may contribute substantially to CHD...
  98. ncbi Profile of major congenital malformations at Nizwa Hospital, Oman: 10-year review
    Kiran P Sawardekar
    Department of Paediatrics, Nizwa Hospital, Nizwa, Sultanate of Oman
    J Paediatr Child Health 41:323-30. 2005
    ..The objective of this study was to establish the profile of major congenital malformations at Nizwa Hospital, which is a major hospital in the Al-Dakhliya region of Oman...
  99. pmc Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Mol Vis 17:971-6. 2011
    ..To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus...
  100. ncbi Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity
    Ghassan Chehab
    Department of Paediatrics, Lebanese University, Faculty of Medical Sciences, Hadath, Greater Beirut, Lebanon
    Cardiol Young 17:414-22. 2007
    To test on a large cohort whether parental consanguinity varies among different types of congenitally malformed hearts.
  101. ncbi Impact of consanguinity on cancer in a highly endogamous population
    Abdulbari Bener
    Dept of Medical Statistics and Epidemiology, Hamad Medical Corporation, Hamad General Hospital, Qatar
    Asian Pac J Cancer Prev 10:35-40. 2009
    Many epidemiological studies have indicated that inbreeding has little or no effect on the incidence of cancer. Due to the high prevalence of consanguinity in Qatar (54%), its influence may nevertheless be of special importance.

Research Grants72

  1. CANCER IN THE JERUSALEM PERINATAL STUDY COHORT
    Susan Harlap; Fiscal Year: 2002
    ..Specific subsets of the mothers were interviewed in 1966-68 and 1975-76, adding information on consanguinity, antenatal health, body size, smoking, fertility, gynecologic variables and contraceptive use...
  2. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2005
    ..in Middle East populations, an area with unique features valuable for research, including a high rate of consanguinity, high fat diet, and smoking...
  3. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2003
    ..in Middle East populations, an area with unique features valuable for research, including a high rate of consanguinity, high fat diet, and smoking...
  4. A Collaborative search for new genes for non-syndromic deafness
    Mustafa Tekin; Fiscal Year: 2010
    ..times and much of the population still lives in about 40,000 small villages throughout the country, where consanguinity is the cultural norm...
  5. RETINITIS PIGMENTOSA IN INDIA: MOLECULAR GENETIC STUDI*
    Chitra Kannabiran; Fiscal Year: 2004
    ..Recessive RP in India is frequently associated with consanguinity. The goal of this study is to identify the genetic bases for recessive RP in India...
  6. Patient-Oriented Research in Recessive Pediatric Brain Diseases
    Joseph Gleeson; Fiscal Year: 2007
    ..neurological diseases take an enormous human toll, especially in relatively poor populations with high consanguinity rates...
  7. JERUSALEM PERINATAL COHORT SCHIZOPHRENIA STUDY
    Dolores Malaspina; Fiscal Year: 2006
    ..at birth, health data through childhood, and data on parental health, including reported mental illness and consanguinity. It has sufficient power to examine even rare exposures...
  8. Human Epilepsy Genetics Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2007
    ..Attention will particularly focus on pedigrees that show consanguinity for mapping rare recessive disease genes...
  9. MOLECULAR GENETICS OF HEREDITARY GLAUCOMA
    Val Sheffield; Fiscal Year: 2004
    ..Data obtained from this aspect of the project will make a significant impact on the management of patients with juvenile primary open angle glaucoma. ..
  10. Molecular Genetics of Glaucoma
    Val C Sheffield; Fiscal Year: 2010
    ..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
  11. Evaluation of complex inheritance of retinal degeneration in Bardet-Biedl Syndrom
    Val C Sheffield; Fiscal Year: 2010
    ..Mechanisms that are determined to play a role in the genetic complexity of BBS will likely provide insight into the complex inheritance of more common eye disorders, as well as obesity, hypertension and diabetes. ..
  12. MOLECULAR BIOLOGY OF SYNDROMIC RETINAL DEGENERATION
    Val Sheffield; Fiscal Year: 2001
    ..Candidate genes will be evaluated by genetic mapping and mutational screening in Bardet-Biedl syndrome patients. ..
  13. A PROGRAM FOR RAT GENE DISCOVERY AND MAPPING
    Val Sheffield; Fiscal Year: 2001
    ..Progress during the initial phase of this project resulted in unprecedented efficiency in gene discovery. ..
  14. Interdisciplinary approach to retinal disease gene identification
    Val Sheffield; Fiscal Year: 2009
    ..The development, validation and utilization of a high throughput assay to verify disease causation is an important component of the overall goal to identify new retinal disease genes. ..
  15. Interdisciplinary approach to retinal disease gene identification
    Val Sheffield; Fiscal Year: 2007
    ..The development, validation and utilization of a high throughput assay to verify disease causation is an important component of the overall goal to identify new retinal disease genes. ..
  16. Regulation of P450c17 Lyase Activity in Adrenache
    Qing Dong; Fiscal Year: 2007
    ..abstract_text> ..