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Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and
Eri Takeshita1, Eiji Nakagawa, Katsutoshi Nakatani
1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Abstract:
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.
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