The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

ABSTRACT: In the last few years, several genes involved in X-specific mental retardation (MR) have been identified by using genetic analysis. Although it is likely that additional genes responsible for idiopathic MR are also localized on the autosomes, cloning and characterization of such genes have been elusive so far. Here, we report the isolation of a previously uncharacterized gene, MEGAP, which is disrupted and functionally inactivated by a translocation breakpoint in a patient who shares some characteristic clinical features, such as hypotonia and severe MR, with the 3p(-) syndrome. By fluorescence in situ hybridization and loss of heterozygosity analysis, we demonstrated that this gene resides on chromosome 3p25 and is deleted in 3p(-) patients that present MR. MEGAP/srGAP3 mRNA is predominan

SUBMITTER: Endris V 

PROVIDER: S-EPMC129341 | biostudies-literature | 2002 Sep

REPOSITORIES: biostudies-literature