TY - JOUR
T1 - Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy
AU - Pande, Shruti
AU - Mascarenhas, Selinda
AU - Venkatraman, Aishwarya
AU - Bhat, Vivekananda
AU - Narayanan, Dhanya Lakshmi
AU - Siddiqui, Shahyan
AU - Bielas, Stephanie
AU - Girisha, Katta Mohan
AU - Shukla, Anju
N1 - Funding Information:
We would like to acknowledge the families for their consent and participation in the study. We would also like to acknowledge and thank the National Institutes of Health, United States for funding the study, “Genetic Diagnosis of Neurodevelopmental Disorders in India” (1R01HD093570‐01A1). This grant is awarded to AS, KMG, and SB. We also thank the Indian council of Medical Research for awarding the Nurturing Clinical Scientist Fellowship (HRD/NCS‐2019‐03) to SP.
Publisher Copyright:
© 2023 Wiley Periodicals LLC.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.63330
DO - 10.1002/ajmg.a.63330
M3 - Article
AN - SCOPUS:85162205470
SN - 1552-4825
VL - 191
SP - 2175
EP - 2180
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -