MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder a...
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Published in | American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 128B; no. 1; pp. 50 - 53 |
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Main Authors | , , , , , , , , , |
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Language | English |
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Abstract | Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3′‐untranslated region (3′‐UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations‐single strand conformation polymorphism (SSCP) (DOVAM‐S). To our knowledge, this is the first analysis of variants in conserved regions of the 3′‐UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3′‐UTR variants was found in autism. One missense and two 3′‐UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. © 2004 Wiley‐Liss, Inc. |
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AbstractList | Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3'-untranslated region (3'-UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations-single strand conformation polymorphism (SSCP) (DOVAM-S). To our knowledge, this is the first analysis of variants in conserved regions of the 3'-UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3'-UTR variants was found in autism. One missense and two 3'-UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. Abstract Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3′‐untranslated region (3′‐UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations‐single strand conformation polymorphism (SSCP) (DOVAM‐S). To our knowledge, this is the first analysis of variants in conserved regions of the 3′‐UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3′‐UTR variants was found in autism. One missense and two 3′‐UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism ( P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. © 2004 Wiley‐Liss, Inc. Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental retardation syndromes. Furthermore, putative mutations recently have been described in a few autistic patients and a boy with language disorder and schizophrenia. In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males. The coding regions, adjacent splicing junctions, and highly conserved segments of the 3′‐untranslated region (3′‐UTR) were examined in 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases by detection of virtually all mutations‐single strand conformation polymorphism (SSCP) (DOVAM‐S). To our knowledge, this is the first analysis of variants in conserved regions of the 3′‐UTR of this gene. A total of 5.2 kb per haploid gene was analyzed (1.5 Mb for 214 patients). A higher frequency of missense and 3′‐UTR variants was found in autism. One missense and two 3′‐UTR variants were found in 24 patients with autism versus one patient with a missense change in 144 ethnically similar individuals without autism (P = 0.009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. © 2004 Wiley‐Liss, Inc. |
Author | Yan, Jin Heston, Leonard L. Feng, Jinong Glanzmann, Cecile Cook Jr, Edwin H. Jones, Ian R. Shibayama, Akane Sommer, Steve S. Craddock, Nick Goldman, David |
Author_xml | – sequence: 1 givenname: Akane surname: Shibayama fullname: Shibayama, Akane organization: Department of Molecular Genetics, City of Hope National Medical Center, California – sequence: 2 givenname: Edwin H. surname: Cook Jr fullname: Cook Jr, Edwin H. organization: Department of Psychiatry, University of Chicago, Chicago, Illinois – sequence: 3 givenname: Jinong surname: Feng fullname: Feng, Jinong organization: Department of Molecular Genetics, City of Hope National Medical Center, California – sequence: 4 givenname: Cecile surname: Glanzmann fullname: Glanzmann, Cecile organization: Department of Molecular Genetics, City of Hope National Medical Center, California – sequence: 5 givenname: Jin surname: Yan fullname: Yan, Jin organization: Department of Molecular Genetics, City of Hope National Medical Center, California – sequence: 6 givenname: Nick surname: Craddock fullname: Craddock, Nick organization: Division of Neuroscience, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Birmingham, UK – sequence: 7 givenname: Ian R. surname: Jones fullname: Jones, Ian R. organization: Division of Neuroscience, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Birmingham, UK – sequence: 8 givenname: David surname: Goldman fullname: Goldman, David organization: Department of Psychiatry, NIAAA, NIH, Bethesda, Maryland – sequence: 9 givenname: Leonard L. surname: Heston fullname: Heston, Leonard L. organization: Department of Psychiatry, University of Washington, Seattle, Washington – sequence: 10 givenname: Steve S. surname: Sommer fullname: Sommer, Steve S. email: sommerlab@coh.org organization: Department of Molecular Genetics, City of Hope National Medical Center, California |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/15211631$$D View this record in MEDLINE/PubMed |
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Snippet | Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked mental... Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental... Abstract Mutations in the gene coding for methyl‐CpG‐binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X‐linked... |
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SubjectTerms | 3' Untranslated Regions - genetics 3′-UTR autism Autistic Disorder - genetics Chromosomal Proteins, Non-Histone - genetics Conserved Sequence DNA Mutational Analysis DNA-Binding Proteins - genetics Female Gene Components Genetic Predisposition to Disease Genetic Variation Humans Male MECP2 Mental Disorders - genetics Methyl-CpG-Binding Protein 2 Molecular Epidemiology mutation detection Mutation, Missense Polymorphism, Single-Stranded Conformational psychiatric diseases Repressor Proteins - genetics schizophrenia Schizophrenia - genetics |
Title | MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism |
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