De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
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.
Department of Neonatology, Medical Center for Maternal and Child Health, St. Mary's Hospital, Kurume, Fukuoka, Japan.
Munetsugu
M
Hara
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Chihiro
C
Ohba
Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Yushiro
Y
Yamashita
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Hirotomo
H
Saitsu
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanazawa-ku, Yokohama, Japan.
Naomichi
N
Matsumoto
Departments of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Toyojiro
T
Matsuishi
D000328:Adult; D001483:Base Sequence; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology*; D017422:Sequence Analysis, DNA
D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human
Rett syndrome; SHANK3; de novo; deletion; frameshift; whole-exome sequencing