Mustafa Tekin

Summary

Affiliation: University of Miami
Country: USA

Publications

  1. pmc SLITRK6 mutations cause myopia and deafness in humans and mice
    Mustafa Tekin
    John P Hussman Institute for Human Genomics and Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    J Clin Invest 123:2094-102. 2013
  2. pmc GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
    Mustafa Tekin
    The Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida 33136, USA
    Ann Hum Genet 74:155-64. 2010
  3. pmc Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
    Guney Bademci
    1 John P Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
    Genet Test Mol Biomarkers 18:658-61. 2014
  4. pmc An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability
    Michelle Falcone
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
    PLoS ONE 8:e82810. 2013
  5. doi request reprint De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
    Willa Thorson
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    Hum Genet 133:737-42. 2014
  6. pmc Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    Oscar Diaz-Horta
    John P Hussman Institute for Human Genomics and the Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e50628. 2012
  7. pmc Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 89:289-94. 2011
  8. doi request reprint Whole-exome sequencing and its impact in hereditary hearing loss
    Tahir AtIk
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, USA
    Genet Res (Camb) 97:e4. 2015
  9. pmc Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
    Guney Bademci
    John P Hussmann Institute for Human Genomics and John T Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    BMC Med Genet 16:9. 2015
  10. doi request reprint MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
    Nisha Garg
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL
    J Pediatr 167:489-91. 2015

Collaborators

Detail Information

Publications27

  1. pmc SLITRK6 mutations cause myopia and deafness in humans and mice
    Mustafa Tekin
    John P Hussman Institute for Human Genomics and Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    J Clin Invest 123:2094-102. 2013
    ..Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness...
  2. pmc GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
    Mustafa Tekin
    The Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida 33136, USA
    Ann Hum Genet 74:155-64. 2010
    ..We found a lower frequency of assortative mating (37.5%) and decreased genetic fitness (62%) of the deaf in Mongolia as compared to the western populations, which provides an explanation for lower frequency of GJB2 deafness in Mongolia...
  3. pmc Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
    Guney Bademci
    1 John P Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
    Genet Test Mol Biomarkers 18:658-61. 2014
    ..6%) families in our sample set. We conclude that CNVs can be reliably detected through WES and should be the part of pipelines used to clarify genetic basis of hearing loss. ..
  4. pmc An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability
    Michelle Falcone
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
    PLoS ONE 8:e82810. 2013
    ..SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures. ..
  5. doi request reprint De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
    Willa Thorson
    Dr John T Macdonald Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    Hum Genet 133:737-42. 2014
    ..In conclusion, our study suggests a pathogenic mechanism for MMIHS by identifying causative ACTG2 mutations. ..
  6. pmc Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
    Oscar Diaz-Horta
    John P Hussman Institute for Human Genomics and the Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e50628. 2012
    ..The excess of heterozygous variants should be considered during search for causative mutations in ARNSHL genes, especially in small-sized families...
  7. pmc Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 89:289-94. 2011
    ..Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function...
  8. doi request reprint Whole-exome sequencing and its impact in hereditary hearing loss
    Tahir AtIk
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, USA
    Genet Res (Camb) 97:e4. 2015
    ..In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing. ..
  9. pmc Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
    Guney Bademci
    John P Hussmann Institute for Human Genomics and John T Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    BMC Med Genet 16:9. 2015
    ..Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies...
  10. doi request reprint MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
    Nisha Garg
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL
    J Pediatr 167:489-91. 2015
    ..Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics. ..
  11. doi request reprint Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
    Katherina Walz
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M 860, Miami, FL, 33136, USA
    Hum Genet 134:181-90. 2015
    ..We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome. ..
  12. pmc Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria
    Akeem O Lasisi
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria
    Int J Pediatr Otorhinolaryngol 78:1870-3. 2014
    ..e. those in GJB2, GJB6, and mitochondrial DNA) among subjects from Nigeria with hearing loss (HL) with no evidence of acquired pathology or syndromic findings. In addition, we review the literature on the genetics of deafness in SSA...
  13. pmc Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
    Kemal O Yariz
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 91:872-82. 2012
    ..We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss...
  14. pmc Challenges in whole exome sequencing: an example from hereditary deafness
    Asli Sirmaci
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
    PLoS ONE 7:e32000. 2012
    ..This study highlights some of the challenges in the analyses of whole exome data in the bid to establish the true causative variant in Mendelian disease...
  15. pmc Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment
    Xiao Mei Ouyang
    Department of Otolaryngology, University of Miami, Miami, Florida, USA
    Genet Test Mol Biomarkers 15:333-6. 2011
    ..889C>A (p.D297N), were found. None of the identified changes appeared to be pathogenic. Our data suggest that GJA7 alterations have no or low genetic relevance in nonsyndromic hearing loss in these populations...
  16. doi request reprint Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
    Stephanie Sacharow
    Dr John T Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    Am J Med Genet A 158:547-52. 2012
    ..We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome. © 2012 Wiley Periodicals, Inc...
  17. doi request reprint Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
    Tahir AtIk
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    Orphanet J Rare Dis 10:128. 2015
    ..Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations affect only MASP-3...
  18. pmc Similar phenotypes caused by mutations in OTOG and OTOGL
    Anne M M Oonk
    1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4Programa de Medicina Molecular i Genètica, Hospital Vall d Hebron, Barcelona, Spain 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain 6Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain 7Unidad de Genética Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain 8John P Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA 9Dr John T Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Ear Hear 35:e84-91. 2014
    ....
  19. pmc Next-generation sequencing in genetic hearing loss
    Denise Yan
    Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Genet Test Mol Biomarkers 17:581-7. 2013
    ..In this review, we describe commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hearing loss (HL) and to the discovery of novel genes for syndromic and nonsyndromic HL. ..
  20. pmc Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise
    Denise Yan
    Department of Otolaryngology, University of Miami School of Medicine, Miami, FL 33136, USA
    Proc Natl Acad Sci U S A 110:2228-33. 2013
    ..V60L, noise exposure exacerbated high-frequency hearing loss in young adulthood. Our results suggest that P2X(2) function is required for life-long normal hearing and for protection from exposure to noise...
  21. pmc Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome
    Kemal O Yariz
    Department of Human Genetics and Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, USA
    Fertil Steril 96:e125-30. 2011
    ..To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis...
  22. pmc MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
    Asli Sirmaci
    Dr John T Macdonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami, FL 33136, USA
    Am J Hum Genet 87:679-86. 2010
    ..These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period...
  23. pmc GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis
    Michael A Gonzalez
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA
    Hum Mutat 34:842-6. 2013
    ..In addition, the system is fast, obtaining results within 4 sec across ∼1,200 exomes. We believe that this system will further enhance identification of genetic causes of human disease...
  24. pmc Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
    Deling Li
    Department of Pathology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Mol Cytogenet 5:18. 2012
    ..abstract:..
  25. ncbi request reprint Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome
    Ankur Singh
    Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India and John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA Correspondence to Dr Seema Kapoor, M 439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India
    Indian Pediatr 51:919-20. 2014
    ..Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate...
  26. doi request reprint Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy
    Nisha Garg
    Dr John T Macdonald Foundation Department of Human Genetics and John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB 610 M 860, Miami, FL, 33136, USA
    Eur J Pediatr 173:827-30. 2014
    ..We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1...
  27. pmc A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss
    Asli Sirmaci
    Dr John T Macdonald Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA
    Am J Hum Genet 86:797-804. 2010
    ..We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss...