Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

ABSTRACT: Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large fol

SUBMITTER: Moreno-De-Luca D 

PROVIDER: S-EPMC2978962 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature