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Journal article

De novo truncating mutations in WASF1 cause intellectual disability with seizures

Abstract:

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator betw...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2018.06.001

Authors


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Cambridge Biomedical Research Centre More from this funder
Care4Rare Canada Consortium More from this funder
Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
103
Issue:
1
Pages:
144-153
Publication date:
2018-06-28
Acceptance date:
2018-06-04
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:859775
URN:
uri:1ae68034-4aff-4784-9e83-ec80662de0ea
UUID:
uuid:1ae68034-4aff-4784-9e83-ec80662de0ea
Local pid:
pubs:859775

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