Charles Schwartz

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. 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
  2. doi request reprint Progress in detecting genetic alterations and their association with human disease
    Charles E Schwartz
    Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA Electronic address
    J Mol Biol 425:3914-8. 2013
  3. pmc DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families
    Joe A Hettinger
    Department of Physiology, Queen s University, Kingston, ON, Canada
    Behav Brain Funct 8:19. 2012
  4. pmc Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C
    Daria Grafodatskaya
    Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada
    BMC Med Genomics 6:1. 2013
  5. 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
  6. pmc PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
    Brent C Satterfield
    Cooperative Diagnostics, LLC, Greenwood, SC 29646, USA
    Mol Autism 1:14. 2010
  7. 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
  8. pmc TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
    Christiane Christophe-Hobertus
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire IRIBHM, Universite Libre de Bruxelles, IBMM, B 6041 Gosselies, Belgium
    BMC Med Genet 5:22. 2004
  9. pmc Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
    Ravinesh A Kumar
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada
    BMC Med Genet 8:48. 2007
  10. pmc The FU gene and its possible protein isoforms
    Torben Østerlund
    Department of Biosciences at Novum, Karolinska Institutet, SE 141 57 Huddinge, Sweden
    BMC Genomics 5:49. 2004

Research Grants

  1. X-Linked Mental Retardation-Linkage
    Charles Schwartz; Fiscal Year: 2006

Detail Information

Publications72

  1. 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...
  2. doi request reprint Progress in detecting genetic alterations and their association with human disease
    Charles E Schwartz
    Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA Electronic address
    J Mol Biol 425:3914-8. 2013
    ..This is presently the rate-limiting step in providing a convincing association between a genetic alteration and a human disorder. ..
  3. pmc DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families
    Joe A Hettinger
    Department of Physiology, Queen s University, Kingston, ON, Canada
    Behav Brain Funct 8:19. 2012
    ..Our previous findings suggest a role for dopamine-related genes in families with only affected males...
  4. pmc Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C
    Daria Grafodatskaya
    Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada
    BMC Med Genomics 6:1. 2013
    ..Identification of epigenetic alterations occurring in these disorders could shed light on molecular pathways relevant to neurodevelopment...
  5. 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...
  6. pmc PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
    Brent C Satterfield
    Cooperative Diagnostics, LLC, Greenwood, SC 29646, USA
    Mol Autism 1:14. 2010
    ..Further, no anti-XMRV antibodies were detected, ruling out possible low level or abortive infections in blood or in other reservoirs. These results imply that XMRV is not associated with autism...
  7. 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...
  8. pmc TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
    Christiane Christophe-Hobertus
    Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire IRIBHM, Universite Libre de Bruxelles, IBMM, B 6041 Gosselies, Belgium
    BMC Med Genet 5:22. 2004
    ..1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR)...
  9. pmc Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
    Ravinesh A Kumar
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada
    BMC Med Genet 8:48. 2007
    ..In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes...
  10. pmc The FU gene and its possible protein isoforms
    Torben Østerlund
    Department of Biosciences at Novum, Karolinska Institutet, SE 141 57 Huddinge, Sweden
    BMC Genomics 5:49. 2004
    ..Since Ci and GLI are targets of Hedgehog signaling in development and morphogenesis, it is expected that FU plays an important role in Sonic, Desert and/or Indian Hedgehog induced cellular signaling...
  11. pmc Microarray data integration for genome-wide analysis of human tissue-selective gene expression
    Liangjiang Wang
    Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA
    BMC Genomics 11:S15. 2010
    ..The expression profiles contain valuable information for understanding human gene expression patterns. However, the effective use of public microarray data requires integrating the expression profiles from heterogeneous sources...
  12. 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...
  13. 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...
  14. 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...
  15. 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
  16. 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
    ....
  17. 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
    ....
  18. ncbi request reprint Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation
    David B Everman
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Am J Med Genet A 140:1375-83. 2006
    ..Thus, SHFM3 abnormalities underlie a substantial proportion of SHFM cases and appear to be a more frequent cause of non-syndromic SHFM than mutations in TP63...
  19. 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...
  20. 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...
  21. 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...
  22. ncbi request reprint X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype
    Kenton R Holden
    Greenwood Genetic Center, Greenwood, SC, USA
    J Child Neurol 20:852-7. 2005
    ....
  23. 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...
  24. 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
    ....
  25. doi request reprint The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation
    Reycel Maghirang-Rodriguez
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 149:622-5. 2009
    ..940G allele and either microcephaly or MR. However, we found highly significant racial differences in the c.940G > C SNP allele frequencies between African-American and Caucasian populations...
  26. 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...
  27. doi request reprint Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
    Pamela B Jackson
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
    Autism Res 2:232-6. 2009
    ..20; 95% CI=0.56-2.56; chi(2)=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism...
  28. 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...
  29. 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...
  30. doi request reprint Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry
    John Sowell
    South Carolina Center for the Treatment of Genetic Disorders, Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, United States
    Clin Chim Acta 412:655-60. 2011
    ..The SMS gene encodes an enzyme involved in polyamine metabolism. Specifically, individuals with Snyder-Robinson have lack or have diminished capability to covert spermidine to spermine...
  31. 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...
  32. 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...
  33. 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...
  34. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  35. 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...
  36. 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
  37. 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...
  38. pmc Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8
    Jurgen Jansen
    Department of Internal Medicine, Erasmus Medical Center, Room Ee502, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Endocrinology 149:2184-90. 2008
    ..Mutants L434W, L568P, and S194F showed significant residual transport capacity, which may underlie the more advanced psychomotor development observed in patients with these mutations...
  39. ncbi request reprint A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
    John M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Am J Med Genet A 123:37-44. 2003
    ..Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome...
  40. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  41. ncbi request reprint A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes
    Jodi D Hoffman
    Division of Genetics, Department of Pediatrics, Tufts New England Medical Center, Boston, Massachusetts 02111, USA
    Am J Med Genet A 143:1282-6. 2007
    ..We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded...
  42. 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...
  43. 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...
  44. pmc Evidence that SIZN1 is a candidate X-linked mental retardation gene
    Ginam Cho
    Department of Pathology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 146:2644-50. 2008
    ..We report on four different sequence variants in SIZN1 in 11 individuals with nonsyndromic X-linked mental retardation (XLMR). Our data implicate SIZN1 as a candidate gene for XLMR and/or as a neurocognitive functional modifier...
  45. 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...
  46. ncbi request reprint Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences
    Eugene H Chang
    Molecular Otolaryngology Research Labs, University of Iowa, Iowa City, Iowa 52242, USA
    Hum Mutat 23:582-9. 2004
    ..We conclude that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements...
  47. ncbi request reprint A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
    Christian Babbs
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Hum Genet 122:191-9. 2007
    ..2 breakpoint associated with ectrodactyly, and the mapping of the ectrodactylous Dominant hemimelia mouse mutation to a region of homologous synteny, suggests that 2q14.2 represents a novel locus for SHFLD...
  48. ncbi request reprint A previously unreported mutation in a Currarino syndrome kindred
    Raymond Y Wang
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 140:1923-30. 2006
    ..This family provides additional information on the degree of intrafamilial variability associated with HLXB9 mutations...
  49. pmc The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
    Claus Lenski
    Department of Obstetrics and Gynecology, Technical University, Munich, Germany
    Am J Hum Genet 80:372-7. 2007
    ....
  50. ncbi request reprint Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Am J Med Genet A 140:1384-95. 2006
    ..Our data suggest that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signalling...
  51. 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...
  52. 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
    ....
  53. pmc Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus
    F Lucy Raymond
    Cambridge Institute of Medical Research, University of Cambridge, Cambridge, CB2 2XY, UK
    Am J Hum Genet 80:982-7. 2007
    ..Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes...
  54. ncbi request reprint Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 140:162-5. 2006
    ..The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS...
  55. 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...
  56. ncbi request reprint Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
    Olivier Hagens
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
    Hum Genet 118:578-90. 2006
    ..Our results suggest that hKIAA1202 may be important in cognitive function and/or development...
  57. 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...
  58. ncbi request reprint Family MRX9 revisited: further evidence for locus heterogeneity in MRX
    Birgitta Winnepenninckx
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Med Genet 112:17-22. 2002
    ..We refined the mapping of the MRX9 family to Xp11.22-Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations...
  59. pmc Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
    Robert M Plenge
    Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics and Research Institute, University Hospitals of Cleveland, OH 44106, USA
    Am J Hum Genet 71:168-73. 2002
    ....
  60. pmc X chromosome-inactivation patterns of 1,005 phenotypically unaffected females
    James M Amos-Landgraf
    Department of Genetics, Case Western Reserve Univeristy, Cleveland, USA
    Am J Hum Genet 79:493-9. 2006
    ..By comparison with this data set, the degree of skewed inactivation in a given individual can now be quantified and evaluated for its potential clinical significance...
  61. ncbi request reprint High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Neurosci Lett 409:10-3. 2006
    ..In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility...
  62. 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...
  63. 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...
  64. pmc Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
    Ye Wu
    Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 104:18163-8. 2007
    ..Our study provides the genetic and functional evidence that mutant iGluR3 with altered kinetic properties is associated with moderate cognitive impairment in humans...
  65. ncbi request reprint Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application
    Efraim H Rosenberg
    Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 28:890-6. 2007
    ..Pro554Leu) are pathogenic mutations and four variants (p.Lys4Arg, p.Gly26Arg, p.Met560Val, and p.Val629Ile) are nonpathogenic. The present study provides an improved diagnostic tool to classify sequence variants of unknown significance...
  66. doi request reprint XLMR genes: update 2007
    Pietro Chiurazzi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 16:422-34. 2008
    ..We briefly consider the molecular function of known XLMR proteins and discuss the possible strategies to identify the remaining XLMR genes. Final remarks are made on the natural history of XLMR conditions and on diagnostic issues...
  67. 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...
  68. 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...
  69. pmc Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation
    Ning Ding
    Department of Molecular Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245, USA
    Mol Cell 31:347-59. 2008
    ..These findings implicate Mediator in epigenetic restriction of neuronal gene expression to the nervous system and suggest a pathologic basis for MED12-associated XLMR involving impaired REST-dependent neuronal gene regulation...
  70. 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...
  71. 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...
  72. pmc Detecting polymorphisms and mutations in candidate genes
    Julianne S Collins
    Am J Hum Genet 71:1251-2. 2002

Research Grants5

  1. X-Linked Mental Retardation-Linkage
    Charles Schwartz; Fiscal Year: 2006
    ..In summary, this represents a unique study that combines a variety of methodologies and disciplines in order to better understand the role of genes on the X chromosome in brain development and function. ..