Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Xuemei, Wu, Bingbing, Chen, Huiyao, Zhang, Ping, Qian, Yanyan, Peng, Xiaomin, Dong, Xinran, Wang, Yaqiong, Li, Gang, Dong, Chenbin, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582536/
https://www.ncbi.nlm.nih.gov/pubmed/36275064
http://dx.doi.org/10.3389/fped.2022.982361
Descripción
Sumario: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.