Frontiers in Pediatrics (Oct 2022)

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

  • Xuemei Zhao,
  • Bingbing Wu,
  • Huiyao Chen,
  • Ping Zhang,
  • Yanyan Qian,
  • Xiaomin Peng,
  • Xinran Dong,
  • Yaqiong Wang,
  • Gang Li,
  • Chenbin Dong,
  • Huijun Wang

DOI
https://doi.org/10.3389/fped.2022.982361
Journal volume & issue
Vol. 10

Abstract

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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.

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