A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome-Reference-Cited by-同舟云学术

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

Published:2021-10-15 Issue: Volume:2021 Page:1-5
ISSN:2314-6141
Container-title:BioMed Research International
language:en
Short-container-title:BioMed Research International

Author:

Zhang Yue¹²,Xu Manhong¹,Zhang Minglian²,Yang Guoxing²^ORCID,Li Xiaorong¹^ORCID

Affiliation:

1. Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin 300384, China

2. Hebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye Hospital, Xingtai, Hebei 054001, China

Abstract

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.

Funder

Youth Talent Project of Xingtai

Publisher

Hindawi Limited

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://downloads.hindawi.com/journals/bmri/2021/4514967.pdf

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