Ontology highlight
ABSTRACT:
SUBMITTER: Motazacker MM
PROVIDER: S-EPMC2227928 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
American journal of human genetics 20070831 4
Nonsyndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked forms, but, in contrast to the latter, they are still largely unexplored. Here, we report a complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2, also called "GLUR6") that cosegregates with moderate-to-severe nonsyndromic autosomal recessive mental retardation in a large, consanguineous Iranian family. The predicted gene product ...[more]