Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay

Craniosynostosis is a premature fusion of cranial sutures, resulting in abnormally shaped skull and brain development disorder. The description of craniosynostosis in patients with BCL11B mutations is rare. Here, we firstly report a 25-month-old Chinese boy with a novel frameshift variant in BCL11B gene. The patient was identified c.2346_2361del by whole-exome sequencing and was confirmed to be de novo by parental Sanger sequencing. This patient presented clinical phenotype of craniosynostosis as well as global developmental delay. He had a small mouth, thin upper lip, arched eyebrows, a long philtrum, midfacial hypoplasia and craniosynostosis. Brain MRI showed brain extracerebral interval and myelination changes, and brain CT with 3D reconstruction showed multi-craniosynostosis. Our study expands the clinical phenotypes of patients with BCL11B gene mutation, and our findings may help guide clinical treatment and family genetic counseling.

Automated summary

This study reported a novel frameshift variant in the BCL11B gene in a Chinese boy with craniosynostosis and global developmental delay. The patient exhibited abnormal skull and brain development as observed in brain MRI and CT scans. This study expands the clinical phenotypes of patients with BCL11B gene mutation and provides guidance for clinical treatment and genetic counseling.