title: AGTR2 mutations in X-linked mental retardation.
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 the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.
authors.affiliation: J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA.
authors.forename: Virginie S
authors.initials: VS
authors.lastname: Vervoort
authors.forename: Michael A
authors.initials: MA
authors.lastname: Beachem
authors.forename: Penny S
authors.initials: PS
authors.lastname: Edwards
authors.forename: Sydney
authors.initials: S
authors.lastname: Ladd
authors.forename: Karin E
authors.initials: KE
authors.lastname: Miller
authors.forename: Xavier
authors.initials: X
authors.lastname: de Mollerat
authors.forename: Katie
authors.initials: K
authors.lastname: Clarkson
authors.forename: Barbara
authors.initials: B
authors.lastname: DuPont
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Ellen
authors.initials: E
authors.lastname: Boyd
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
mesh_terms: D000595:Amino Acid Sequence; D000804:Angiotensin II; D002531:Cerebellum / Q000378:metabolism; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D020868:Gene Silencing; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D020161:Physical Chromosome Mapping; D017354:Point Mutation; D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*
chemical_list: D044139:Receptor, Angiotensin, Type 2; D011945:Receptors, Angiotensin; D000804:Angiotensin II