AUTHOR=Zhao Xuemei , Wu Bingbing , Chen Huiyao , Zhang Ping , Qian Yanyan , Peng Xiaomin , Dong Xinran , Wang Yaqiong , Li Gang , Dong Chenbin , Wang Huijun TITLE=Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay JOURNAL=Frontiers in Pediatrics VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.982361 DOI=10.3389/fped.2022.982361 ISSN=2296-2360 ABSTRACT=

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.