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

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 o...

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Detalles Bibliográficos
Autores principales: Zhang, Yue, Xu, Manhong, Zhang, Minglian, Yang, Guoxing, Li, Xiaorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536422/
https://www.ncbi.nlm.nih.gov/pubmed/34692830
http://dx.doi.org/10.1155/2021/4514967
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author Zhang, Yue
Xu, Manhong
Zhang, Minglian
Yang, Guoxing
Li, Xiaorong
author_facet Zhang, Yue
Xu, Manhong
Zhang, Minglian
Yang, Guoxing
Li, Xiaorong
author_sort Zhang, Yue
collection PubMed
description 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.
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spelling pubmed-85364222021-10-23 A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome Zhang, Yue Xu, Manhong Zhang, Minglian Yang, Guoxing Li, Xiaorong Biomed Res Int Research Article 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. Hindawi 2021-10-15 /pmc/articles/PMC8536422/ /pubmed/34692830 http://dx.doi.org/10.1155/2021/4514967 Text en Copyright © 2021 Yue Zhang et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Zhang, Yue
Xu, Manhong
Zhang, Minglian
Yang, Guoxing
Li, Xiaorong
A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title_full A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title_fullStr A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title_full_unstemmed A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title_short A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
title_sort novel bbs9 mutation identified via whole-exome sequencing in a chinese family with bardet-biedl syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536422/
https://www.ncbi.nlm.nih.gov/pubmed/34692830
http://dx.doi.org/10.1155/2021/4514967
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