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De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient
Author(s) -
Hara Munetsugu,
Ohba Chihiro,
Yamashita Yushiro,
Saitsu Hirotomo,
Matsumoto Naomichi,
Matsuishi Toyojiro
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36775
Subject(s) - rett syndrome , mecp2 , phenotype , neurodevelopmental disorder , mutation , genetics , biology , intellectual disability , gene
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.