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 - Publisher Copyright:
© 2023 Wiley Periodicals LLC.
PY - 2023/8
Y1 - 2023/8
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.
KW - BAFopathy
KW - BCL11B
KW - craniosynostosis
KW - immunodeficiency
KW - neurodevelopment
KW - transcription factor
KW - Frameshift Mutation
KW - Humans
KW - Transcription Factors/genetics
KW - Repressor Proteins/genetics
KW - Intellectual Disability/genetics
KW - Tumor Suppressor Proteins/genetics
KW - Phenotype
KW - Craniosynostoses/diagnosis
KW - Neurodevelopmental Disorders/genetics
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UR - https://www.mendeley.com/catalogue/77739465-724b-3c66-90a2-cbd620016621/
U2 - 10.1002/ajmg.a.63330
DO - 10.1002/ajmg.a.63330
M3 - Article
C2 - 37337996
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 -