R E Stevenson

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. pmc Decreased tryptophan metabolism in patients with autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Mol Autism 4:16. 2013
  2. pmc Seizures and X-linked intellectual disability
    Roger E Stevenson
    Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Med Genet 55:307-12. 2012
  3. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
  4. pmc XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
    Monica L Stepp
    J C Self Research Institute, Genetic Center, Greenwood, S C USA
    BMC Med Genet 6:16. 2005
  5. doi request reprint Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis
    R E Stevenson
    JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA
    Clin Genet 75:326-33. 2009
  6. pmc Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males
    Roger E Stevenson
    Greenwood Genetic Center, J C Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 143:2321-9. 2007
  7. ncbi request reprint Advances in X-linked mental retardation
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Curr Opin Pediatr 17:720-4. 2005
  8. ncbi request reprint Renpenning syndrome comes into focus
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 134:415-21. 2005
  9. ncbi request reprint Clinical and molecular contributions to the understanding of X-linked mental retardation
    R E Stevenson
    J C Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Cytogenet Genome Res 99:265-75. 2002
  10. ncbi request reprint Neural tube defects and associated anomalies in South Carolina
    Roger E Stevenson
    Greenwood Genetic Center, South Carolina 29646, USA
    Birth Defects Res A Clin Mol Teratol 70:554-8. 2004

Research Grants

  1. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003

Detail Information

Publications72

  1. pmc Decreased tryptophan metabolism in patients with autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Mol Autism 4:16. 2013
    ..Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions...
  2. pmc Seizures and X-linked intellectual disability
    Roger E Stevenson
    Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Med Genet 55:307-12. 2012
    ..The majority of the genes associated with XLID and seizures have now been identified...
  3. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
    ..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay...
  4. pmc XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
    Monica L Stepp
    J C Self Research Institute, Genetic Center, Greenwood, S C USA
    BMC Med Genet 6:16. 2005
    ..The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation...
  5. doi request reprint Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis
    R E Stevenson
    JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA
    Clin Genet 75:326-33. 2009
    ..This connection through the ventral wall prevents normal egress of the gut into the umbilical cord during the second month of development and acts as the egress point for the gut resulting in gastroschisis...
  6. pmc Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males
    Roger E Stevenson
    Greenwood Genetic Center, J C Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 143:2321-9. 2007
    ..X-linkage as the mode of inheritance is proposed on the basis of different severity in males/females, complete skewing of X-inactivation in informative females, and a lod score (1.5) suggestive of linkage to markers in Xq26-q27...
  7. ncbi request reprint Advances in X-linked mental retardation
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Curr Opin Pediatr 17:720-4. 2005
    ..This is a result in large part of the identification of large families in which mental retardation has segregated in an X-linked pattern and the greater ease with which molecular technologies can be applied to hemizygosity in males...
  8. ncbi request reprint Renpenning syndrome comes into focus
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 134:415-21. 2005
    ..In acknowledgement of the historical importance of the original report of Renpenning syndrome [1962], we propose that the entities with PQBP1 mutations be combined under the name of Renpenning syndrome...
  9. ncbi request reprint Clinical and molecular contributions to the understanding of X-linked mental retardation
    R E Stevenson
    J C Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Cytogenet Genome Res 99:265-75. 2002
    ..The genes involve signaling pathways, transcription factors, cytoskeletal organization, cell adhesion and migration, and maintenance of the cell membrane potential...
  10. ncbi request reprint Neural tube defects and associated anomalies in South Carolina
    Roger E Stevenson
    Greenwood Genetic Center, South Carolina 29646, USA
    Birth Defects Res A Clin Mol Teratol 70:554-8. 2004
    ..Neural tube defects (NTDs) occur as isolated malformations and in the company of other birth defects. This study was conducted to determine the frequency of coexisting anomalies and the relationship between them...
  11. ncbi request reprint Splitting and lumping in the nosology of XLMR
    R E Stevenson
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Am J Med Genet 97:174-82. 2000
    ..g., Arena and monoamine oxidase-A syndromes) are among these more or less well-defined entities. In addition, more than 75 families with nonsyndromal XLMR have been regionally mapped and 7 causative genes have been identified...
  12. ncbi request reprint Genetic syndromes among individuals with mental retardation
    Roger E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 123:29-32. 2003
    ..The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development...
  13. ncbi request reprint Decline in prevalence of neural tube defects in a high-risk region of the United States
    R E Stevenson
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Pediatrics 106:677-83. 2000
    ..To conduct surveillance for neural tube defects (NTDs) in a high-risk region of the United States and to prevent occurrence and recurrence of NTDs through the periconceptional use of folic acid supplements...
  14. ncbi request reprint X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21
    F Abidi
    JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet 85:223-9. 1999
    ..2. This family highlights the difficulty in classifying XLMR conditions as either nonsyndromic or syndromic because of the variable somatic manifestations observed in the affected males...
  15. ncbi request reprint MRX8: an X-linked mental retardation condition with linkage to Xq21
    C E Schwartz
    Greenwood Genetic Center, SC 29646
    Am J Med Genet 43:467-74. 1992
    ..00; Zmax = 1.6). A multipoint lod score of 2.36 was obtain with no recombination relative to DXS326 in Xq21. This family is considered to have nonspecific X-linked mental retardation and has been given the designation MRX8...
  16. pmc Renpenning syndrome maps to Xp11
    R E Stevenson
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 62:1092-101. 1998
    ..In none of these entities has the responsible gene been isolated; hence, the possibility that two or more of them may be allelic cannot be excluded at present...
  17. pmc Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
    F E Abidi
    Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    J Med Genet 45:787-93. 2008
    ..The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2...
  18. ncbi request reprint Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel
    K Sossey-Alaoui
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genomics 60:330-40. 1999
    ..Exclusive expression of the TRPC5 gene in developing and adult brain suggests a possible role during development and provides a candidate gene for instances of mental retardation and other developmental defects...
  19. ncbi request reprint Short-term memory deficits in carrier females with KDM5C mutations
    R J Simensen
    Greenwood Genetic Center, Greenwood, SC 29201, USA
    Genet Couns 23:31-40. 2012
    ..Implications for counseling are presented...
  20. ncbi request reprint Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies
    S S Bhat
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA
    Cytogenet Genome Res 112:170-5. 2006
    ..These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment...
  21. ncbi request reprint The HOPA gene dodecamer duplication is not a significant etiological factor in autism
    R C Michaelis
    J C Self Research Institute, Greenwood Genetic Center, South Carolina 29646, USA
    J Autism Dev Disord 30:355-8. 2000
    ..These findings suggest that the dodecamer duplication in the HOPA gene does not play a significant role in the etiology of autism...
  22. ncbi request reprint Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21
    D Tackels-Horne
    JC Self Research Institute, Greenwood Genetic Center, SC 29646, USA
    Clin Genet 59:28-36. 2001
    ..37 at theta = 0.0 for locus D7S527) at 80% penetrance. Efforts to identify the responsible gene have not yet been successful...
  23. ncbi request reprint Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21
    B Hane
    J C Self Research Institute, Greenwood Genetic Center, South Carolina 29646, USA
    Clin Genet 50:176-83. 1996
    ..The XLMR gene in this family has been assigned the designation MRX29. The localization overlaps with at least six other MRX entities linked to the distal short arm of the X chromosome...
  24. pmc Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
    S S Cathey
    Greenwood Genetic Center, Charleston Office, Montague Oaks Office Park, N Charleston, SC 29418, USA
    J Med Genet 47:38-48. 2010
    ..The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase...
  25. ncbi request reprint Cognitive function in Coffin-Lowry syndrome
    R J Simensen
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, SC 29646, USA
    Clin Genet 61:299-304. 2002
    ..Normal females in the family did not demonstrate skewing. The correlation coefficient between IQ and X-inactivation status among carriers was not significant...
  26. ncbi request reprint Obstetrical and gynecological complications in fragile X carriers: a multicenter study
    C E Schwartz
    Greenwood Genetic Center, South Carolina 29646
    Am J Med Genet 51:400-2. 1994
    ..As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMR1 gene may play a role in the development and proliferation of oogonia...
  27. doi request reprint Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
    M J Lyons
    Greenwood Genetic Center Charleston Office, 3520 W Montague Ave, Ste 104, North Charleston, SC 29418, USA
    J Med Genet 46:9-13. 2009
    ..In 2007, a recurrent R961W mutation in the MED12 gene at Xq13 was found to cause FGS in six families, including the original family described by Opitz and Kaveggia. The phenotype was highly consistent in all the R961W positive patients...
  28. ncbi request reprint Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    Michael J Friez
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Pediatrics 118:e1687-95. 2006
    ....
  29. pmc The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome
    Charles E Schwartz
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA
    Best Pract Res Clin Endocrinol Metab 21:307-21. 2007
    ..This constellation of measurements of thyroid function enables quick screening for AHDS in males presenting with cognitive impairment, congenital hypotonia, and generalized muscle weakness...
  30. pmc AGTR2 in brain development and function
    Virginie S Vervoort
    Greenwood Genetic Center, J C Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 140:419-20. 2006
  31. ncbi request reprint A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
    ....
  32. doi request reprint Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome)
    Charles E Schwartz
    Greenwood Genetic Center, J C Self Research Institute, Greenwood, SC, USA
    Methods Mol Biol 720:437-45. 2011
    ..Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans...
  33. doi request reprint Finding new etiologies of mental retardation and hypotonia: X marks the spot
    R Curtis Rogers
    Greenwood Genetic Center, Greenwood, SC, USA
    Dev Med Child Neurol 50:104-11. 2008
    ..This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes...
  34. pmc Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
    ..Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys...
  35. doi request reprint Fragile X syndrome detection in newborns-pilot study
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Med 10:714-9. 2008
    ..A pilot study was conducted to establish the feasibility of newborn screening for fragile X syndrome...
  36. ncbi request reprint A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
    Xavier J de Mollerat
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA
    Hum Mol Genet 12:1959-71. 2003
    ..This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed...
  37. ncbi request reprint Dietary intake and blood folate levels in Honduran women of childbearing age
    Kenton R Holden
    Greenwood Genetic Center, SC, USA
    J Child Neurol 17:341-6. 2002
    ..Our data support using an established folic acid fortification public health initiative to decrease the prevalence of neural tube defects in Honduras...
  38. pmc X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    Kimberly A Hahn
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 70:1349-56. 2002
    ..The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology...
  39. doi request reprint Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3
    Jayson D Rodriguez
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:713-7. 2010
    ....
  40. pmc Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
    Charles E Schwartz
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Am J Hum Genet 77:41-53. 2005
    ..Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations...
  41. ncbi request reprint Genetic syndromes and co-mobidity with autism
    Roger E Stevenson
    Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA
    J S C Med Assoc 102:280-1. 2006
  42. ncbi request reprint X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
    A Lauren Cason
    1J C Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Eur J Hum Genet 11:937-44. 2003
    ..Additionally, the presence of MR reflects a role for spermine in cognitive function, possibly by spermine's ability to function as an 'intrinsic gateway' molecule for inward rectifier K(+) channels...
  43. ncbi request reprint Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
    Fatima E Abidi
    JC Self Research Institute, Greenwood Genetic Center, SC 29646, USA
    Eur J Hum Genet 13:176-83. 2005
    ..Our data suggest that ChLS is allelic to the ATR-X syndrome with its less severe phenotype being due to the presence of some XNP/ATR-X protein...
  44. pmc Considering the Embryopathogenesis of VACTERL Association
    R E Stevenson
    Greenwood Genetic Center, Greenwood, S C, USA
    Mol Syndromol 4:7-15. 2013
    ..What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies...
  45. ncbi request reprint X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
    Amy J Clark
    J C Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Hum Genet 119:604-10. 2006
    ..Thus, DNA sequence analysis and/or a Cr:Crn urine screen is warranted in any male with MR of unknown cause...
  46. ncbi request reprint Prevalence of aneuploidies in South Carolina in the 1990s
    Julianne S Collins
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Genet Med 4:131-5. 2002
    ..This study examined the possibility that increased folic acid intake among women of childbearing age may decrease the prevalence of trisomy 21 and other aneuploidies...
  47. doi request reprint X-linked intellectual disability: unique vulnerability of the male genome
    Roger E Stevenson
    J C Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Dev Disabil Res Rev 15:361-8. 2009
    ..Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment...
  48. ncbi request reprint AGTR2 mutations in X-linked mental retardation
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Science 296:2401-3. 2002
    ..These findings indicate a role for AGTR2 in brain development and cognitive function...
  49. pmc A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
    Andrew J Sharp
    Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific St, Seattle, Washington 98195, USA
    Nat Genet 40:322-8. 2008
    ..The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes...
  50. pmc Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    Marijke Bauters
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Genome Res 18:847-58. 2008
    ..Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements...
  51. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  52. ncbi request reprint Periconceptional multivitamin folic acid use, dietary folate, total folate and risk of neural tube defects in South Carolina
    Shirley J Thompson
    Department of Epidemiology and Biostatistics, Norman J Arnold School of Public Health, University of South Carolina, Columbia, SC 29208, USA
    Ann Epidemiol 13:412-8. 2003
    ..To investigate whether dietary folate or multivitamin folic acid taken 3 months before conception and during the first 3 months of pregnancy reduces the risk of isolated occurrent neural tube defect (NTD)-affected pregnancies...
  53. ncbi request reprint A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred
    Lilei Zhang
    Predoctoral Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
    Am J Med Genet A 140:349-57. 2006
    ....
  54. pmc Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
    Claus Lenski
    Am J Hum Genet 74:777-80. 2004
  55. ncbi request reprint Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3
    Rita C Stocco dos Santos
    Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil
    Am J Med Genet A 118:255-9. 2003
    ..Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983...
  56. pmc The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
    Charles E Schwartz
    J Med Genet 44:472-7. 2007
    ..Thus, it seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene...
  57. ncbi request reprint Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome
    Virginie S Vervoort
    Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29654, USA
    Eur J Hum Genet 10:757-66. 2002
    ..These data suggest that more complex rearrangements may remain undetected in EYA1 since SSCP and sequencing were commonly used to detect mutations in this gene...
  58. pmc SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
    Gregor D Gilfillan
    Department of Medical Genetics, Ulleval University Hospital, NO 0407 Oslo, Norway
    Am J Hum Genet 82:1003-10. 2008
    ..Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations...
  59. pmc Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
    Patrick S Tarpey
    Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 39:1127-33. 2007
    ..The UPF3B protein is an important component of the NMD surveillance machinery. Our results directly implicate abnormalities of NMD in human disease and suggest at least partial redundancy of NMD pathways...
  60. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  61. ncbi request reprint A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
    Juliane Ramser
    1Institute of Human Genetics, Ludwig Maximilians University, Munich 80336, Germany
    Hum Mol Genet 14:1019-27. 2005
    ..Thus, our findings confirm the importance of the RAS in cognitive processes and indicate a novel specific role for the renin receptor in cognitive functions and brain development...
  62. pmc Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
    Eri Arikawa-Hirasawa
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA
    Am J Hum Genet 70:1368-75. 2002
    ..These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS...
  63. ncbi request reprint Shashi XLMR syndrome: report of a second family
    Nelson H C Castro
    Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil
    Am J Med Genet A 118:49-51. 2003
    ..2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome...
  64. ncbi request reprint Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports
    Art Aylsworth
    Am J Med Genet A 119:93; discussion 94. 2003
  65. ncbi request reprint Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 139:106-13. 2005
    ..This microarray provides a detailed characterization for chromosomal abnormalities involving 15q11-q14 and is useful for more precise genotype-phenotype correlations for autism, PWS, AS, and idic(15) syndrome...
  66. pmc Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation
    Patrick S Tarpey
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Am J Hum Genet 79:1119-24. 2006
    ..AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles...
  67. pmc Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
    Patrick S Tarpey
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Am J Hum Genet 80:345-52. 2007
    ..The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority...
  68. pmc X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation
    Lilei Zhang
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Genome Res 17:641-8. 2007
    ..We conclude that our XCA screening is an efficient strategy to identify genes that show significant changes in transcript abundance as candidate genes for XLMR...
  69. ncbi request reprint Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations
    Michael Marble
    Division of Clinical Genetics, Department of Pediatrics, Children s Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA
    Am J Med Genet A 143:1442-7. 2007
    ..The presence of neurological and cognitive deterioration in the three carriers deviates from the usual expectation that carrier expression only occurs in families when males are mildly affected...
  70. doi request reprint Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders
    Julie R Jones
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 146:2213-20. 2008
    ..This hypothesis accommodates the predominantly sporadic occurrence (95%), the male excess (4:1), and the usual absence of malformations or other syndromic manifestations in ASDs...
  71. pmc Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome
    Shelli R Kesler
    Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305 5795, USA
    Neurogenetics 8:143-7. 2007
    ..We provide preliminary evidence that the magnitude of hippocampus volume deviation from that of controls may predict general cognitive outcome in CLS...
  72. ncbi request reprint Adverse birth outcome among mothers with low serum cholesterol
    Robin J Edison
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, 35 Convent Dr, Bethesda, MD 20892 3717, USA
    Pediatrics 120:723-33. 2007
    ....

Research Grants1

  1. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....