Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation
- 1 January 2004
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 114 (2) , 211-213
- https://doi.org/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.Keywords
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