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...
Autores principales: | , , , , , , , , , , |
---|---|
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 |
_version_ | 1784812861808181248 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9582536 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT zhaoxuemei casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT wubingbing casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT chenhuiyao casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT zhangping casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT qianyanyan casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT pengxiaomin casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT dongxinran casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT wangyaqiong casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT ligang casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT dongchenbin casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay AT wanghuijun casereportanoveltruncatingvariantofbcl11bassociatedwithrarefeatureofcraniosynostosisandglobaldevelopmentaldelay |