| Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. | |
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MedLine Citation:
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PMID: 9733292 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance. Both conditions can be difficult to diagnose in girls early in their clinical course and can be difficult to distinguish from each other. Genomic imprinting is a known association in Angelman syndrome and previously has been suggested in Rett syndrome. Our aim was to evaluate the methylation status in a cohort of classical patients with Rett syndrome, using a methylation system for chromosome 15q11-13. Methylation analysis of chromosome 15 has not been previously reported in Rett syndrome. Furthermore, we document the clinical features of 31 girls with classical Rett syndrome and confirm the phenotypic similarities between Rett syndrome and Angelman syndrome. The methylation studies in these girls with Rett syndrome were normal. This excludes an imprinting error of the Angelman syndrome critical region on chromosome 15 (15q11-13) as an association with Rett syndrome, and indicates that methylation studies may be useful in distinguishing Rett syndrome from Angelman syndrome in young patients with an overlapping clinical phenotype. A normal methylation pattern, however, does not exclude the diagnosis of Angelman syndrome and clear distinction between the two syndromes will evolve over time. |
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Authors:
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C Ellaway; T Buchholz; A Smith; H Leonard; J Christodoulou |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of child neurology Volume: 13 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 1998 Sep |
Date Detail:
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Created Date: 1998-12-04 Completed Date: 1998-12-04 Revised Date: 2006-11-15 |
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: 448-51 Citation Subset: IM |
Affiliation:
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Department of Paediatrics and Child Health, University of Sydney, New South Wales, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Angelman Syndrome / diagnosis, genetics* Child Child, Preschool Chromosome Aberrations Chromosome Disorders Chromosomes, Human, Pair 15 / genetics* DNA Methylation* Diagnosis, Differential Female Humans Male Phenotype Rett Syndrome / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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