Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy

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• 作者：Eri Takeshita ; Eiji Nakagawa ; Katsutoshi Nakatani ; Masayuki Sasaki ; Yu-ichi Goto
• 关键词：Angiotensin II type-2 receptor gene (AGTR2) ; Epilepsy ; Mental retardation (MR) ; Pervasive developmental disorder (PDD)
• 刊名：Brain and Development
• 出版年：2012
• 出版时间：October, 2012
• 年：2012
• 卷：34
• 期：9
• 页码：776-779
• 全文大小：344 K

文摘

Angiotensin II type-2 receptor gene (AGTR2) mutations have been recently detected in patients with mental retardation. AGTR2 plays a role in central nervous system development and cognitive functions. We identified a novel missense mutation of c.572G>A (p.G191E) in a 6-year-old boy showing severe mental retardation, pervasive developmental disorder, and epilepsy. This is the first report on AGTR2 mutation in a Japanese boy with mental retardation.