Journal article
BCL11B-related disease: a single phenotypic entity?
- Abstract:
- Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long “tail” of rare genetic diagnoses. This means that pathogenic variants in many genes are responsible for a minority of cases, and identifying these disease genes and delineating the associated phenotype is extremely important for patient diagnosis and for genetic counselling of families. One such gene is BCL11B. Heterozygous pathogenic variants in BCL11B have been described as causative for two Mendelian phenotypes, but until recently the gene remained only marginally associated with CRS. We have carried out a systematic review of literature, providing evidence that BCL11B-related disease (BRD) should be regarded as a single phenotypic entity. Furthermore, we describe four new patients, all of whom presented with CRS, thus expanding the phenotype of BRD and highlighting CRS as an important diagnostic clue.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 2.3MB, Terms of use)
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(Supplementary materials, zip, 1.1MB, Terms of use)
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- Publisher copy:
- 10.1038/s41431-025-01824-x
Authors
+ Medical Research Council
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- Funder identifier:
- https://ror.org/03x94j517
- Funding agency for:
- Wilkie, AOM
- Grant:
- MR/T031670/1
+ The VTCT Foundation
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- Funder identifier:
- https://ror.org/010derh63
- Funding agency for:
- Twigg, SRF
+ University of Oxford
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- Funder identifier:
- https://ror.org/052gg0110
- Funding agency for:
- Vedovato-dos-Santos, JH
- Tooze, RS
+ NIHR Oxford Musculoskeletal Biomedical Research Centre
More from this funder
- Funder identifier:
- https://ror.org/00aps1a34
- Funding agency for:
- Wilkie, AOM
- Twigg, SRF
- Publisher:
- Springer Nature
- Journal:
- European Journal of Human Genetics More from this journal
- Volume:
- 33
- Issue:
- 4
- Pages:
- 451-460
- Publication date:
- 2025-03-03
- Acceptance date:
- 2025-02-19
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
- Language:
-
English
- Pubs id:
-
2093596
- Local pid:
-
pubs:2093596
- Deposit date:
-
2025-03-10
- ARK identifier:
Terms of use
- Copyright holder:
- Vedovato-dos-Santos et al.
- Copyright date:
- 2025
- Rights statement:
- © The Author(s) 2025. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
- Licence:
- CC Attribution (CC BY)
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