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Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring–patients affected by developmental d...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873578/ https://www.ncbi.nlm.nih.gov/pubmed/31752730 http://dx.doi.org/10.1186/s12881-019-0920-x |
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author | Zhao, Sha Luo, Zhenqing Xiao, Zhenghui Li, Liping Zhao, Rui Yang, Yongjia Zhong, Yan |
author_facet | Zhao, Sha Luo, Zhenqing Xiao, Zhenghui Li, Liping Zhao, Rui Yang, Yongjia Zhong, Yan |
author_sort | Zhao, Sha |
collection | PubMed |
description | BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. CONCLUSIONS: This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS. |
format | Online Article Text |
id | pubmed-6873578 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-68735782019-11-25 Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms Zhao, Sha Luo, Zhenqing Xiao, Zhenghui Li, Liping Zhao, Rui Yang, Yongjia Zhong, Yan BMC Med Genet Case Report BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. CONCLUSIONS: This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS. BioMed Central 2019-11-21 /pmc/articles/PMC6873578/ /pubmed/31752730 http://dx.doi.org/10.1186/s12881-019-0920-x Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Zhao, Sha Luo, Zhenqing Xiao, Zhenghui Li, Liping Zhao, Rui Yang, Yongjia Zhong, Yan Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title_full | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title_fullStr | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title_full_unstemmed | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title_short | Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms |
title_sort | case report: two novel vps13b mutations in a chinese family with cohen syndrome and hyperlinear palms |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873578/ https://www.ncbi.nlm.nih.gov/pubmed/31752730 http://dx.doi.org/10.1186/s12881-019-0920-x |
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