Short Report

Human Genetics

, Volume 114, Issue 2, pp 211-213

First online:

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

  • Tero Ylisaukko-ojaAffiliated withNational Public Health Institute, Department of Molecular MedicineDepartment of Medical Genetics, University of Helsinki
  • , Karola RehnströmAffiliated withNational Public Health Institute, Department of Molecular MedicineDepartment of Medical Genetics, University of Helsinki
  • , Raija VanhalaAffiliated withUnit of Child Neurology, Hospital for Children and Adolescents
  • , Carola TengströmAffiliated withRinnekoti Foundation
  • , Jaana LähdetieAffiliated withRinnekoti Foundation
  • , Irma JärveläAffiliated withDepartment of Medical Genetics, University of HelsinkiLaboratory of Molecular Genetics, HUCH-Laboratory Diagnostics Email author 

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Abstract

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.