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Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome

Abstract:

Variants affecting the function of different subunits of the BAF chromatin remodelling complex lead to various neurodevelopmental syndromes including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental delay disorders. Here we report 8 heterozygous de novo variants, 1 frameshift, 2 splice site and 5 missense, in the gene encoding the BAF complex...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2018.01.014

Authors


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Name:
Wellcome Trust
Funding agency for:
Wilkie, AOM
Grant:
Senior Investigator Award 102731
Senior Investigator Award 102731 to AOMW
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Name:
National Institute for Health Research
Funding agency for:
Wilkie, AOM
Grant:
Senior Investigator Award 102731
Oxford Biomedical Research Centre Programme (AOMW
More from this funder
Name:
German Research Foundation
Grant:
INST 410/91-1 FUGG to F.B.E
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Name:
Interdisciplinary Centre for Clinical Research
Grant:
Erlangen project E16 (AR
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Name:
German Federal Ministry of Research and Education
Grant:
01GM1520A(AR),01GM1520B(NB),01GM1520D(TS)
01GM1520E(DW
Publisher:
Cell Press
Journal:
American Journal of Human Genetics More from this journal
Volume:
102
Issue:
3
Pages:
468-479
Publication date:
2018-02-08
Acceptance date:
2018-01-17
DOI:
ISSN:
0002-9297
Keywords:
Pubs id:
pubs:820613
UUID:
uuid:fa6f808e-e7d1-48e4-a62a-f6c7526d4553
Local pid:
pubs:820613
Source identifiers:
820613
Deposit date:
2018-01-19

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