| Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2. | |
| | |
MedLine Citation:
|
PMID: 22001500 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmental delay prior to the age of 6months and later exhibited characteristic features of RTT that included air swallowing, bruxism, and hand stereotypies. Results of an array-based comparative genomic hybridization analysis indicated there was a very small microdeletion in Xq28. Multiplex ligation-dependent probe amplification analysis further confirmed there were heterozygous deletions of intron 2, exon 3, intron 3, and part of exon 4 in MECP2. Findings in the present patient confirm the view that large MECP2 deletions are an important cause of severe congenital variant RTT. To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder. |
| | |
Authors:
|
Yu Kobayashi; Tsukasa Ohashi; Noriyuki Akasaka; Jun Tohyama |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-10-14 |
Journal Detail:
|
Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
|
Created Date: 2011-10-17 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
|
Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Various indications for a modified Atkins diet in intractable childhood epilepsy.
Next Document: Murine ?-galactosidase stability is not dependent on temperature or protective protein/cathepsin A.