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Am J Med Genet A. 2015 Jul;167(7):1593-6. doi: 10.1002/ajmg.a.36775. Epub 2015 Apr 30.

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

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Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Fukuoka, Japan.
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.


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.


Rett syndrome; SHANK3; de novo; deletion; frameshift; whole-exome sequencing

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