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Hum Genet. 2004 Jan;114(2):211-3. Epub 2003 Nov 4.

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

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National Public Health Institute, Department of Molecular Medicine, P.O. Box 104, 00251 Helsinki, Finland.


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.

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