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Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
- Source :
-
Brain & development [Brain Dev] 2010 Nov; Vol. 32 (10), pp. 843-8. Date of Electronic Publication: 2009 Dec 23. - Publication Year :
- 2010
-
Abstract
- Rett syndrome (RS) is a neurodevelopmental disorder caused by mutations in MECP2 gene. Exons 2, 3, and 4, in addition to intronic and 3'UTR adjacent regions, were sequenced in 80 patients with RS. Twenty-nine sequence variations were detected in 49 patients, 34 (69.4%) patients with the classic form of RS, and 15 (30.6%) patients with atypical forms of RS. Thirteen of the 29 detected mutations represent novel sequence variations. Missense mutation T158M was the most commonly observed mutation, detected in nine patients (11.2%). Six hotspot pathogenic mutations (R133C, T158M, R168X, R255X, R270X, and R294X) were responsible for the phenotype in 26/80 patients (32.5%).<br /> (Copyright © 2009 Elsevier B.V. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1872-7131
- Volume :
- 32
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Brain & development
- Publication Type :
- Academic Journal
- Accession number :
- 20031356
- Full Text :
- https://doi.org/10.1016/j.braindev.2009.11.007