期刊
NATURE GENETICS
卷 46, 期 4, 页码 380-+出版社
NATURE PORTFOLIO
DOI: 10.1038/ng.2899
关键词
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资金
- Belgian National Fund for Scientific Research-Flanders (FWO)
- University of Antwerp
- Dutch Organization for Health Research and Development [917-86-319, 40-00812-98-12109, 907-00-365]
- EU-funded GENCODYS project [EU-7th-2010-241995]
- Simons Foundation Autism Research Initiative award [SFARI191889EE]
- NIH [MH101221]
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(1), 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 nextgeneration sequencing, for the large majority of cases no molecular diagnosis can be established(2-7). Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/ SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD- associated genes known to date.
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