Search: WFRF:(Willemsen Marjolein H.) >
A SWI/SNF-related a...
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
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Helsmoortel, Celine (author)
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Vulto-van Silfhout, Anneke T. (author)
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Coe, Bradley P. (author)
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Vandeweyer, Geert (author)
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Rooms, Liesbeth (author)
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van den Ende, Jenneke (author)
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- Schuurs-Hoeijmakers, Janneke H. M. (author)
- Karolinska Institutet
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Marcelis, Carlo L. (author)
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Willemsen, Marjolein H. (author)
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Vissers, Lisenka E. L. M. (author)
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Yntema, Helger G. (author)
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Bakshi, Madhura (author)
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Wilson, Meredith (author)
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Witherspoon, Kali T. (author)
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Malmgren, Helena (author)
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- Nordgren, Ann (author)
- Karolinska Institutet
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- Annerén, Göran (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa
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Fichera, Marco (author)
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Bosco, Paolo (author)
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Romano, Corrado (author)
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de Vries, Bert B. A. (author)
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Kleefstra, Tjitske (author)
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Kooy, R. Frank (author)
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Eichler, Evan E. (author)
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Van der Aa, Nathalie (author)
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(creator_code:org_t)
- 2014-02-16
- 2014
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:4, s. 380-
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Helsmoortel, Cel ...
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Vulto-van Silfho ...
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Coe, Bradley P.
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Vandeweyer, Geer ...
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Rooms, Liesbeth
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van den Ende, Je ...
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show more...
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Schuurs-Hoeijmak ...
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Marcelis, Carlo ...
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Willemsen, Marjo ...
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Vissers, Lisenka ...
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Yntema, Helger G ...
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Bakshi, Madhura
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Wilson, Meredith
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Witherspoon, Kal ...
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Malmgren, Helena
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Nordgren, Ann
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Annerén, Göran
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Fichera, Marco
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Bosco, Paolo
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Romano, Corrado
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de Vries, Bert B ...
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Kleefstra, Tjits ...
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Kooy, R. Frank
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Eichler, Evan E.
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Van der Aa, Nath ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Uppsala University
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Karolinska Institutet