| Literature DB >> 24531329 |
Céline Helsmoortel1, Anneke T Vulto-van Silfhout2, Bradley P Coe3, Geert Vandeweyer4, Liesbeth Rooms1, Jenneke van den Ende5, Janneke H M Schuurs-Hoeijmakers6, Carlo L Marcelis6, Marjolein H Willemsen6, Lisenka E L M Vissers6, Helger G Yntema6, Madhura Bakshi7, Meredith Wilson8, Kali T Witherspoon9, Helena Malmgren10, Ann Nordgren10, Göran Annerén11, Marco Fichera12, Paolo Bosco13, Corrado Romano14, Bert B A de Vries15, Tjitske Kleefstra15, R Frank Kooy1, Evan E Eichler9, Nathalie Van der Aa16.
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, 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.Entities:
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Year: 2014 PMID： 24531329 PMCID： PMC3990853 DOI： 10.1038/ng.2899
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330