title: Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy.
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.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Takeshita
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Katsutoshi
authors.initials: K
authors.lastname: Nakatani
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Goto
mesh_terms: D044466:Asian People; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*
chemical_list: D044139:Receptor, Angiotensin, Type 2