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AGTR2 Mutations in X-Linked Mental Retardation

Science  28 Jun 2002:
Vol. 296, Issue 5577, pp. 2401-2403
DOI: 10.1126/science.1072191

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Abstract

Two angiotensin II (Ang II)–specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal translocation. Additionally, 8 of 590 unrelated male patients with MR were found to have sequence changes in theAGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.

  • * These authors contributed equally to the work.

  • To whom correspondence should be addressed. E-mail: anand{at}ggc.org

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