Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy

Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla

Research output: Contribution to journalArticlepeer-review


Heterozygous disease-causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one of the 17 individuals reported with this disorder till date. We report three additional individuals harboring de novo heterozygous frameshift variants, all lying in the exon 4 of BCL11B. All three individuals presented with the common findings of this disorder i.e. developmental delay, recurrent infections with immunologic abnormalities and facial dysmorphism. Notably, craniosynostosis of variable degree was seen in all three individuals. We, thus add to the evolving genotypes and phenotypes of BCL11B-related BAFopathy and also review the clinical, genomic spectrum along with the underlying disease mechanisms of this disorder.

Original languageEnglish
Pages (from-to)2175-2180
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
Publication statusAccepted/In press - 2023

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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