Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation

Hum Genet. 2004 Jan;114(2):211-3. doi: 10.1007/s00439-003-1048-8. Epub 2003 Nov 4.


Mutations in the coding region of the angiotensin II type 2 receptor gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We report a mutation screening of the AGTR2 gene in 57 Finnish male patients with non-syndromic mental retardation. We identified two mutations, a 62G-->T transversion, which leads to a substitution of glycine for valine (G21V) and a 157A-->T transversion, which causes a substitution of isoleucine for phenylalanine (I53F). The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Mutation / genetics*
  • Receptor, Angiotensin, Type 2 / genetics*


  • Receptor, Angiotensin, Type 2