Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.
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.
Ylisaukko-oja
Tero
T
National Public Health Institute, Department of Molecular Medicine, P.O. Box 104, 00251 Helsinki, Finland.
Rehnström
Karola
K
Vanhala
Raija
R
Tengström
Carola
C
Lähdetie
Jaana
J
Järvelä
Irma
I
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D044139:Receptor, Angiotensin, Type 2 / Q000235:genetics*
D044139:Receptor, Angiotensin, Type 2