Evidence map›Paper›PMID 40033098›Full record

SynthesisEuropean journal of human genetics : EJHG2025

BCL11B-related disease: a single phenotypic entity?

J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram, Emma McCann, Yasemin Alanay, Ozlem A Dogan, Meltem Kilercik, Aysen Bingol, Memet M Ozek, David Johnson and 3 more

Abstract readCase ReportsSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. What's new in April's EJHG?European journal of human genetics : EJHG · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

J Heather Vedovato-Dos-SantosClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0002-0826-1745
Rebecca S ToozeClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Sivagamy SithambaramDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Emma McCannDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Yasemin AlanayDivision of Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey.
Ozlem A DoganDivision of Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey.
Meltem KilercikDivision of Medical Biochemistry, Department Of Basic Sciences, Acibadem University, School Of Medicine, Istanbul, Turkey.
Aysen BingolDivision of Pediatric Allergy and Immunology, Department of Pediatrics, Akdeniz University, School of Medicine, Antalya, Turkey.
Memet M OzekDepartment of Neurosurgery, Acibadem University, School of Medicine, Istanbul, Turkey.
David JohnsonOxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Christoffer NellakerBig Data Institute, Nuffield Department of Women's & Reproductive Health (NDWRH), University of Oxford, Oxford, UK.
Andrew O M WilkieClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0002-2972-5481
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. stephen.twigg@imm.ox.ac.uk.ORCID 0000-0001-5024-049X

Funding

Wellcome Trust
6 · The paper itself

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.

Indexed as

CraniosynostosesPhenotypeRepressor ProteinsTumor Suppressor ProteinsAdolescentChildChild, PreschoolFemaleHumansMaleBCL11B protein, humanRepressor ProteinsTumor Suppressor Proteins

Identifiers

PMID40033098
PMCPMC11985952

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.