NDLI: De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient

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De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient

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De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hara, Munetsugu Ohba, Chihiro Yamashita, Yushiro Saitsu, Hirotomo Matsumoto, Naomichi Matsuishi, Toyojiro
Description	Country affiliation: Japan Author Affiliation: Hara M ( Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Fukuoka, Japan.); Ohba C ( Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.); Yamashita Y ( Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.); Saitsu H ( Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.); Matsumoto N ( Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.); Matsuishi T ( Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.)
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. © 2015 Wiley Periodicals, Inc.
File Format	HTM / HTML
ISSN	15524825
Issue Number	7
Volume Number	167
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-07-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Nerve Tissue Proteins Genetics Phenotype Rett Syndrome Pathology Adult Base Sequence Exome Female Humans Molecular Sequence Data Multiplex Polymerase Chain Reaction Sequence Analysis, Dna Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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