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Genetic variants in BCL11B are linked to craniosynostosis (CRS), a condition of premature skull fusion. This study expands the known phenotype of BCL11B-related disease, identifying CRS as a key diagnostic indicator.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Craniosynostosis (CRS) involves premature fusion of skull sutures, often linked to numerous rare genetic causes.
  • Identifying causative genes and their associated phenotypes is crucial for diagnosis and genetic counseling.
  • BCL11B pathogenic variants were previously linked to other Mendelian phenotypes but only marginally to CRS.

Purpose of the Study:

  • To systematically review literature on BCL11B and craniosynostosis.
  • To establish BCL11B-related disease (BRD) as a single phenotypic entity.
  • To expand the known phenotype of BRD by reporting new cases with CRS.

Main Methods:

  • Systematic literature review of BCL11B and craniosynostosis.
  • Clinical description of four new patients presenting with craniosynostosis.

Main Results:

  • Evidence supports BCL11B-related disease (BRD) as a unified phenotypic entity.
  • Four new patients with pathogenic BCL11B variants and craniosynostosis were identified.
  • Craniosynostosis is confirmed as a significant feature of BRD.

Conclusions:

  • BCL11B pathogenic variants are a cause of craniosynostosis.
  • Craniosynostosis should be considered an important diagnostic clue for BCL11B-related disease.
  • This expands the phenotypic spectrum of BCL11B-related disorders.