Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

ABSTRACT: Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1CAM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb in

SUBMITTER: Van Esch H 

PROVIDER: S-EPMC1226209 | biostudies-literature | 2005 Sep

REPOSITORIES: biostudies-literature