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

作者：Helsmoortel Celine; Vulto van Silfhout Anneke T; Coe Bradley P; Vandeweyer Geert; Rooms Lie**eth; van den Ende Jenneke; Schuurs Hoeijmakers Janneke H M; Marcelis Carlo L; Willemsen Marjolein H; Vissers Lisenka E L M; Yntema Helger G; Bakshi Madhura; Wilson Meredith; Witherspoon Kali T; Malmgren Helena; Nordgren Ann; Anneren Goran; Fichera Marco; Bosco Paolo; Romano Corrado; de Vries Bert B A; Kleefstra Tjitske; Kooy R Frank; Eichler Evan E

来源：Nature Genetics, 2014, 46(4): 380-+.

DOI：10.1038/ng.2899

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.

• 出版日期2014-4