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.

日本語要旨:

アンギオテンシンIIタイプ２受容体遺伝子(AGTR2)の変異例が精神遅滞を引き起こすことが報告された。当院の1例で、同遺伝子の変異例を同定し、本邦初例として報告した。