Human Genetics

, Volume 114, Issue 2, pp 211–213

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

  • Tero Ylisaukko-oja
  • Karola Rehnström
  • Raija Vanhala
  • Carola Tengström
  • Jaana Lähdetie
  • Irma Järvelä
Short Report

DOI: 10.1007/s00439-003-1048-8

Cite this article as:
Ylisaukko-oja, T., Rehnström, K., Vanhala, R. et al. Hum Genet (2004) 114: 211. doi:10.1007/s00439-003-1048-8

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.

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Tero Ylisaukko-oja
    • 1
    • 2
  • Karola Rehnström
    • 1
    • 2
  • Raija Vanhala
    • 3
  • Carola Tengström
    • 4
  • Jaana Lähdetie
    • 4
  • Irma Järvelä
    • 2
    • 5
  1. 1.National Public Health InstituteDepartment of Molecular MedicineHelsinkiFinland
  2. 2.Department of Medical GeneticsUniversity of HelsinkiHelsinkiFinland
  3. 3.Unit of Child NeurologyHospital for Children and AdolescentsHelsinkiFinland
  4. 4.Rinnekoti FoundationEspooFinland
  5. 5.Laboratory of Molecular GeneticsHUCH-Laboratory DiagnosticsHelsinkiFinland