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Journal article

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

Abstract:

Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleoso...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddz072

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
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Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
28
Issue:
15
Pages:
2501–2513
Publication date:
2019-04-03
Acceptance date:
2019-03-29
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Subjects:
Pubs id:
pubs:987379
UUID:
uuid:b16d872e-45a3-4e15-beca-f3d9cd3f7023
Local pid:
pubs:987379
Deposit date:
2019-04-02

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