Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email huangtao99@email.cnObjective: The present study aims...

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Autores principales:	Hu X, Huang T, Liu Y, Zhang L, Zhu L, Peng X, Zhang S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	cohen syndrome vps13b gene heterozygous mutation heterozygous deletion Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff
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spelling	oai:doaj.org-article:d34b9c09195548ef8bc624ffe0afb0ff2021-12-05T18:27:45ZIdentification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing1178-7066https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff2021-12-01T00:00:00Zhttps://www.dovepress.com/identification-of-a-novel-vps13b-mutation-in-a-chinese-patient-with-co-peer-reviewed-fulltext-article-PGPMhttps://doaj.org/toc/1178-7066Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email huangtao99@email.cnObjective: The present study aims to investigate the clinical features and diagnostic characteristics of children with Cohen syndrome caused by the vacuolar protein sorting 13 homolog B (VPS13B) gene mutation and to review the relevant literature to provide a reference for genetic counseling and the diagnosis of Cohen syndrome.Methods: The clinical data and molecular genetic test results of a child with Cohen syndrome were retrospectively analyzed and a review of the relevant literature was conducted.Results: A two-year-and-four-month-old boy was referred to the hospital for recurrent fever and shortness of breath. On physical examination, the boy was found to have growth retardation, thick bushy hair, microcephaly, hypertelorism, down-slanting palpebral fissures, and hypotonia. Genetic testing was performed, and the results suggested the presence of exon 20– 32 heterozygous deletion and c.8275 delC (p.R2759 fs&ast;18) heterozygous variant on the VPS13B gene from phenotypically normal parents. These two mutation loci have not been reported in the literature, and they were predicted by relevant software to be pathogenic variants.Conclusion: We identified two novel variants in the VPS13B gene (exon 20– 32 heterozygous deletion and c.8275 delC heterozygous variant) in a boy with Cohen syndrome, thus extending the spectrum of VPS13B gene variants in patients with Cohen syndrome.Keywords: Cohen syndrome, VPS13B gene, heterozygous mutation, heterozygous deletionHu XHuang TLiu YZhang LZhu LPeng XZhang SDove Medical Pressarticlecohen syndromevps13b geneheterozygous mutationheterozygous deletionTherapeutics. PharmacologyRM1-950ENPharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 1583-1589 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cohen syndrome vps13b gene heterozygous mutation heterozygous deletion Therapeutics. Pharmacology RM1-950
spellingShingle	cohen syndrome vps13b gene heterozygous mutation heterozygous deletion Therapeutics. Pharmacology RM1-950 Hu X Huang T Liu Y Zhang L Zhu L Peng X Zhang S Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
description	Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email huangtao99@email.cnObjective: The present study aims to investigate the clinical features and diagnostic characteristics of children with Cohen syndrome caused by the vacuolar protein sorting 13 homolog B (VPS13B) gene mutation and to review the relevant literature to provide a reference for genetic counseling and the diagnosis of Cohen syndrome.Methods: The clinical data and molecular genetic test results of a child with Cohen syndrome were retrospectively analyzed and a review of the relevant literature was conducted.Results: A two-year-and-four-month-old boy was referred to the hospital for recurrent fever and shortness of breath. On physical examination, the boy was found to have growth retardation, thick bushy hair, microcephaly, hypertelorism, down-slanting palpebral fissures, and hypotonia. Genetic testing was performed, and the results suggested the presence of exon 20– 32 heterozygous deletion and c.8275 delC (p.R2759 fs&ast;18) heterozygous variant on the VPS13B gene from phenotypically normal parents. These two mutation loci have not been reported in the literature, and they were predicted by relevant software to be pathogenic variants.Conclusion: We identified two novel variants in the VPS13B gene (exon 20– 32 heterozygous deletion and c.8275 delC heterozygous variant) in a boy with Cohen syndrome, thus extending the spectrum of VPS13B gene variants in patients with Cohen syndrome.Keywords: Cohen syndrome, VPS13B gene, heterozygous mutation, heterozygous deletion
format	article
author	Hu X Huang T Liu Y Zhang L Zhu L Peng X Zhang S
author_facet	Hu X Huang T Liu Y Zhang L Zhu L Peng X Zhang S
author_sort	Hu X
title	Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
title_short	Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
title_full	Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
title_fullStr	Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
title_full_unstemmed	Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
title_sort	identification of a novel vps13b mutation in a chinese patient with cohen syndrome by whole-exome sequencing
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff
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Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

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