De Novo SHANK3 Mutation Causes Rett Syndrome-Like Phenotype in a Female Patient

Published on Jul 1, 2015in American Journal of Medical Genetics Part A
· DOI :10.1002/AJMG.A.36775
Munetsugu Hara9
Estimated H-index: 9
Chihiro Ohba17
Estimated H-index: 17
(YCU: Yokohama City University)
+ 3 AuthorsToyojiro Matsuishi41
Estimated H-index: 41
(Kurume University)
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. © 2015 Wiley Periodicals, Inc.
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