De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient. (30th April 2015)

• Record Type: Journal Article
• Authors: Hara, Munetsugu; Ohba, Chihiro; Yamashita, Yushiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Matsuishi, Toyojiro
• Is Part Of: American journal of medical genetics. Volume 167:Number 7(2015:Jul.)
• Page Start: 1593
• Page End: 1596
• Publication Date: 2015-04-30
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36775
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36775-sec-0001" sec-type="section"> <p>Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting females. Females with the <italic>MECP2</italic> 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 (<italic>CDKL5</italic>) and forkhead box G1 (<italic>FOXG1</italic>) are also found in early onset RTT variants. Here, we present the first report of a female patient with RTT‐like phenotype caused by <italic>SHANK3</italic> (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of <italic>SHANK3</italic> 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.</p> </sec> </abstract>