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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...

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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
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author Zhao, Xuemei
Wu, Bingbing
Chen, Huiyao
Zhang, Ping
Qian, Yanyan
Peng, Xiaomin
Dong, Xinran
Wang, Yaqiong
Li, Gang
Dong, Chenbin
Wang, Huijun
author_facet Zhao, Xuemei
Wu, Bingbing
Chen, Huiyao
Zhang, Ping
Qian, Yanyan
Peng, Xiaomin
Dong, Xinran
Wang, Yaqiong
Li, Gang
Dong, Chenbin
Wang, Huijun
author_sort Zhao, Xuemei
collection PubMed
description 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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spelling pubmed-95825362022-10-21 Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay Zhao, Xuemei Wu, Bingbing Chen, Huiyao Zhang, Ping Qian, Yanyan Peng, Xiaomin Dong, Xinran Wang, Yaqiong Li, Gang Dong, Chenbin Wang, Huijun Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-10-06 /pmc/articles/PMC9582536/ /pubmed/36275064 http://dx.doi.org/10.3389/fped.2022.982361 Text en Copyright © 2022 Zhao, Wu, Chen, Zhang, Qian, Peng, Dong, Wang, Li, Dong and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zhao, Xuemei
Wu, Bingbing
Chen, Huiyao
Zhang, Ping
Qian, Yanyan
Peng, Xiaomin
Dong, Xinran
Wang, Yaqiong
Li, Gang
Dong, Chenbin
Wang, Huijun
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title_full Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title_fullStr Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title_full_unstemmed Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title_short Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
title_sort case report: a novel truncating variant of bcl11b associated with rare feature of craniosynostosis and global developmental delay
topic Pediatrics
url 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
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