Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family

Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton a...

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Autores principales:	Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Jing Wang, Shanling Liu
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	TRIOBP DFNB28 variation hearing loss next generation sequencing Genetics QH426-470
Acceso en línea:	https://doaj.org/article/916ef4ff7af94c7dbdbe0a9469e6bbf1
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spelling	oai:doaj.org-article:916ef4ff7af94c7dbdbe0a9469e6bbf12021-11-17T06:03:59ZCase Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family1664-802110.3389/fgene.2021.766973https://doaj.org/article/916ef4ff7af94c7dbdbe0a9469e6bbf12021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.766973/fullhttps://doaj.org/toc/1664-8021Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. This study aimed to identify pathogenic variants in a patient with HL. Genomic DNA obtained from a 33-year-old woman with HL was evaluated using a disease-targeted gene panel. Using next generation sequencing and bioinformatics analysis, we identified two novel TRIOBP c.1170delC (p.S391Pfs488) and c.3764C > G (p.S1255) variants. Both parents of the patient were heterozygous carriers of the gene. The two variants have not been reported in general population databases or published literature. The findings of this study will broaden the spectrum of pathogenic variants in the TRIOBP gene.Cong ZhouCong ZhouYuanyuan XiaoYuanyuan XiaoHanbing XieHanbing XieJing WangJing WangShanling LiuShanling LiuFrontiers Media S.A.articleTRIOBPDFNB28variationhearing lossnext generation sequencingGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	TRIOBP DFNB28 variation hearing loss next generation sequencing Genetics QH426-470
spellingShingle	TRIOBP DFNB28 variation hearing loss next generation sequencing Genetics QH426-470 Cong Zhou Cong Zhou Yuanyuan Xiao Yuanyuan Xiao Hanbing Xie Hanbing Xie Jing Wang Jing Wang Shanling Liu Shanling Liu Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
description	Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. This study aimed to identify pathogenic variants in a patient with HL. Genomic DNA obtained from a 33-year-old woman with HL was evaluated using a disease-targeted gene panel. Using next generation sequencing and bioinformatics analysis, we identified two novel TRIOBP c.1170delC (p.S391Pfs488) and c.3764C > G (p.S1255) variants. Both parents of the patient were heterozygous carriers of the gene. The two variants have not been reported in general population databases or published literature. The findings of this study will broaden the spectrum of pathogenic variants in the TRIOBP gene.
format	article
author	Cong Zhou Cong Zhou Yuanyuan Xiao Yuanyuan Xiao Hanbing Xie Hanbing Xie Jing Wang Jing Wang Shanling Liu Shanling Liu
author_facet	Cong Zhou Cong Zhou Yuanyuan Xiao Yuanyuan Xiao Hanbing Xie Hanbing Xie Jing Wang Jing Wang Shanling Liu Shanling Liu
author_sort	Cong Zhou
title	Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
title_short	Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
title_full	Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
title_fullStr	Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
title_full_unstemmed	Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
title_sort	case report: novel compound heterozygous variants in triobp associated with congenital deafness in a chinese family
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/916ef4ff7af94c7dbdbe0a9469e6bbf1
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Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family

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