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Science 296 (5577): 2401-2403

Copyright © 2002 by the American Association for the Advancement of Science

AGTR2 Mutations in X-Linked Mental Retardation

Virginie S. Vervoort,1* Michael A. Beachem,1* Penny S. Edwards,1* Sydney Ladd,1 Karin E. Miller,1 Xavier de Mollerat,12 Katie Clarkson,1 Barbara DuPont,12 Charles E. Schwartz,12 Roger E. Stevenson,12 Ellen Boyd,3 Anand K. Srivastava12dagger

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 the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.

1 J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA.
2 Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA.
3 Fullerton Genetics Center, Asheville, NC 28803, USA.
*   These authors contributed equally to the work.

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



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