Ontology highlight
ABSTRACT:
SUBMITTER: Schroer RJ
PROVIDER: S-EPMC3448824 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Schroer Richard J RJ Beaudet Arthur L AL Shinawi Marwan M Sahoo Trilochan T Patel Ankita A Sun Qin Q Skinner Cindy C Stevenson Roger E RE
American journal of medical genetics. Part A 20120910 10
Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes. Activity of the enzyme gene product in fibroblasts was elevated to over twice the level in control fibroblasts. The boy had no somatic or neurolog ...[more]