, Volume 114, Issue 4, p 396
Date: 13 Jan 2004

The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies

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Recently, Ylisaukko-oja et al. (2004) reported AGTR2 mutations in two out of 57 Finnish male patients with non-syndromic mental retardation: G21V and I53F. The genetic variant G21V had previously been reported by Vervoort et al. (2002) in a study of X-linked mental retardation (MR). In eight out of 590 unrelated male patients with MR four mutations (one frameshift and three missense mutations) were found. These included G21V, which was found in one male patient and his elder brother, who was also affected, and in an unrelated male with MR. G21V was absent in 510 male individuals without MR. The authors concluded that G21V is the pathogenic mutation in these three patients with severe MR.

Besides its role in the central nervous system, the AGTR2 gene plays an important role in the cardiovascular system, being the predominant angiotensin receptor subtype in the human heart (Regitz-Zagrosek et al. 1995). To generate data concerning the involvement of genetic variants of the AGTR2 gene in t ...