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De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jul; Vol. 167 (7), pp. 1593-6. Date of Electronic Publication: 2015 Apr 30. - Publication Year :
- 2015
-
Abstract
- Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the MECP2 mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers. Mutations of genes encoding cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FOXG1) are also found in early onset RTT variants. Here, we present the first report of a female patient with RTT-like phenotype caused by SHANK3 (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of SHANK3 mutations may extend to RTT-like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability.<br /> (© 2015 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 167
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 25931020
- Full Text :
- https://doi.org/10.1002/ajmg.a.36775