Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation
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- Ylisaukko-oja, T., Rehnström, K., Vanhala, R. et al. Hum Genet (2004) 114: 211. doi:10.1007/s00439-003-1048-8
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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.