A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

ABSTRACT: Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics,

SUBMITTER: Helsmoortel C 

PROVIDER: S-EPMC3990853 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature