| MECP2 abnormality phenotypes: clinicopathologic area with broad variability. | |
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MedLine Citation:
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PMID: 16225826 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize the clinical picture of deviations in MECP2 at this moment to obtain a comprehensive overview. Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers. In the center, with dominant numbers, we have placed classic Rett syndrome presentations, together with the late-onset Rett syndrome variant and preserved speech variant. In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations. |
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Authors:
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Anna Erlandson; Bengt Hagberg |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Journal of child neurology Volume: 20 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2005 Sep |
Date Detail:
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Created Date: 2005-10-17 Completed Date: 2005-12-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 727-32 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Göteborg University Sahlgrenska University Hospital, Sweden. anna.erlandson@clingen.gu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Angelman Syndrome
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genetics,
pathology Autistic Disorder / genetics, pathology Female Heterozygote Humans Male Mental Retardation / genetics, pathology Microcephaly / genetics, pathology Mutation / genetics* Phenotype* Rett Syndrome / genetics, pathology |
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