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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
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2014 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 46, no 4, 380-+ p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2014. Vol. 46, no 4, 380-+ p.
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Medical Genetics
URN: urn:nbn:se:uu:diva-225086DOI: 10.1038/ng.2899ISI: 000334510100015OAI: oai:DiVA.org:uu-225086DiVA: diva2:724964
Available from: 2014-06-13 Created: 2014-05-27 Last updated: 2014-06-13Bibliographically approved

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