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

Brain Dev. 2012 Oct;34(9):776-9. doi: 10.1016/j.braindev.2011.12.010. Epub 2012 Jan 24.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People
  • Child
  • Child Development Disorders, Pervasive / complications
  • Child Development Disorders, Pervasive / genetics*
  • DNA Mutational Analysis
  • Electroencephalography
  • Epilepsy / complications
  • Epilepsy / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense / genetics*
  • Receptor, Angiotensin, Type 2 / genetics*

Substances

  • Receptor, Angiotensin, Type 2