| Updating the profile of C-terminal MECP2 deletions in Rett syndrome. | |
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MedLine Citation:
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PMID: 19914908 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. METHODS: Cases were selected from InterRett, an international database and from the population-based Australian Rett Syndrome Database. Cases (n=832) were included if they had a pathogenic MECP2 mutation in which the nature of the amino acid change was known. Three severity scale systems were used, and individual aspects of the phenotype were also compared. RESULTS: Lower severity was associated with C-terminal deletions (n=79) compared to all other MECP2 mutations (e.g. Pineda scale C-terminals mean 15.0 (95% CI 14.0-16.0) vs 16.2 (15.9-16.5). Cases with C-terminal deletions were more likely to have a normal head circumference (odds ratio 3.22, 95% CI 1.53 - 6.79) and weight (odds ratio 2.97, 95% CI 1.25-5.76). Onset of stereotypies tended to be later (median age 2.5 years vs 2 years, p<0.001 from survival analysis), and age of learning to walk tended to be earlier (median age 1.6 years vs 2 years, p=0.002 from survival analysis). Those with C-terminal deletions occurring later in the region had lower average severity scores than those occurring earlier in the region. CONCLUSION: In terms of overall severity C-terminal deletion cases would appear to be in the middle of the range. In terms of individual aspects of phenotype growth and ability to ambulate appear to be particular strengths. By pooling data internationally this study has achieved the case numbers to provide a phenotypic profile of C-terminal deletions in Rett syndrome. |
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Authors:
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A Bebbington; A Percy; J Christodoulou; D Ravine; G Ho; P Jacoby; A Anderson; M Pineda; B Ben Zeev; N Bahi-Buisson; E Smeets; H Leonard |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-11-12 |
Journal Detail:
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Title: Journal of medical genetics Volume: 47 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-23 Completed Date: 2010-07-28 Revised Date: 2011-01-03 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 242-8 Citation Subset: IM |
Affiliation:
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Telethon Institute for Child Health Research, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Chi-Square Distribution Child Child, Preschool Databases, Factual Gene Deletion* Humans Infant Methyl-CpG-Binding Protein 2 / genetics* Middle Aged Multivariate Analysis Phenotype Rett Syndrome / genetics*, pathology Severity of Illness Index |
| Grant Support | |
ID/Acronym/Agency:
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5R01HD043100-05/HD/NICHD NIH HHS; R01 HD043100-05/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2 |
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