SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-225086"
 

Search: onr:"swepub:oai:DiVA.org:uu-225086" > A SWI/SNF-related a...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist
  • Helsmoortel, Celine (author)

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

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-02-16
  • Springer Science and Business Media LLC,2014
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-225086
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-225086URI
  • https://doi.org/10.1038/ng.2899DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:128761722URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Vulto-van Silfhout, Anneke T. (author)
  • Coe, Bradley P. (author)
  • Vandeweyer, Geert (author)
  • Rooms, Liesbeth (author)
  • van den Ende, Jenneke (author)
  • Schuurs-Hoeijmakers, Janneke H. M.Karolinska Institutet (author)
  • Marcelis, Carlo L. (author)
  • Willemsen, Marjolein H. (author)
  • Vissers, Lisenka E. L. M. (author)
  • Yntema, Helger G. (author)
  • Bakshi, Madhura (author)
  • Wilson, Meredith (author)
  • Witherspoon, Kali T. (author)
  • Malmgren, Helena (author)
  • Nordgren, AnnKarolinska Institutet (author)
  • Annerén, GöranUppsala universitet,Institutionen för kvinnors och barns hälsa (author)
  • Fichera, Marco (author)
  • Bosco, Paolo (author)
  • Romano, Corrado (author)
  • de Vries, Bert B. A. (author)
  • Kleefstra, Tjitske (author)
  • Kooy, R. Frank (author)
  • Eichler, Evan E. (author)
  • Van der Aa, Nathalie (author)
  • Karolinska InstitutetInstitutionen för kvinnors och barns hälsa (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC46:4, s. 380-+1061-40361546-1718

Internet link

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view