Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Abstract 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 developm...

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Main Authors:	Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang, Yan Zhong
Format:	Article
Language:	English
Published:	BMC 2019-11-01
Series:	BMC Medical Genetics
Subjects:	Cohen syndrome Hyperlinear palm VPS13B gene Mutation Chinese
Online Access:	http://link.springer.com/article/10.1186/s12881-019-0920-x

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spelling	doaj-850b897199484412ae41ba8cb226297e2021-04-02T18:00:10ZengBMCBMC Medical Genetics1471-23502019-11-012011510.1186/s12881-019-0920-xCase report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palmsSha Zhao0Zhenqing Luo1Zhenghui Xiao2Liping Li3Rui Zhao4Yongjia Yang5Yan Zhong6The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South ChinaDepartment of Child Healthcare, Hunan Children’s Hospital, University of South ChinaAbstract 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.http://link.springer.com/article/10.1186/s12881-019-0920-xCohen syndromeHyperlinear palmVPS13B geneMutationChinese
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sha Zhao Zhenqing Luo Zhenghui Xiao Liping Li Rui Zhao Yongjia Yang Yan Zhong
spellingShingle	Sha Zhao Zhenqing Luo Zhenghui Xiao Liping Li Rui Zhao Yongjia Yang Yan Zhong Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms BMC Medical Genetics Cohen syndrome Hyperlinear palm VPS13B gene Mutation Chinese
author_facet	Sha Zhao Zhenqing Luo Zhenghui Xiao Liping Li Rui Zhao Yongjia Yang Yan Zhong
author_sort	Sha Zhao
title	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_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_sort	case report: two novel vps13b mutations in a chinese family with cohen syndrome and hyperlinear palms
publisher	BMC
series	BMC Medical Genetics
issn	1471-2350
publishDate	2019-11-01
description	Abstract 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.
topic	Cohen syndrome Hyperlinear palm VPS13B gene Mutation Chinese
url	http://link.springer.com/article/10.1186/s12881-019-0920-x
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Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

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