| APOE epsilon4: a potential modulation factor in Rett syndrome. | |
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MedLine Citation:
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PMID: 20139413 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the MECP2 (methyl-CpG-binding protein 2) gene. There is considerable variation in the severity of clinical features among Rett syndrome patients, even among patients with the same MECP2 mutation. In addition to X-chromosome inactivation pattern, the genetic background of the affected individual might also have a role in determining the severity of the disorder. We suggest that APOE is one of the genetic modulating factors. We analyzed clinical phenotypes of 46 patients with Rett syndrome, with confirmed MECP2 mutation. We discovered that among epsilon4 carriers, some clinical features were more severe, and the developmental regression occurred 4 months earlier on average than in those without the epsilon4 allele. Earlier onset of regression suggests a possible trend; however, it did not achieve distinctive statistical significance. Nevertheless, the epsilon4 allele of APOE may serve as a candidate modulation factor for the Rett syndrome phenotype. |
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Authors:
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Daniela Zahorakova; Marie Jachymova; David Kemlink; Alice Baxova; Pavel Martasek |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-02-05 |
Journal Detail:
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Title: Journal of child neurology Volume: 25 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-23 Completed Date: 2010-08-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 546-50 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Age of Onset Alleles Apolipoprotein E4 / genetics* Child, Preschool Female Heterozygote Humans Infant Methyl-CpG-Binding Protein 2 / genetics Mutation Phenotype* Rett Syndrome / genetics* Severity of Illness Index |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein E4; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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