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

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Title: Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Jing Wang, Shanling Liu
Source: Frontiers in Genetics, Vol 12 (2021)
Publisher Information: Frontiers Media S.A., 2021.
Publication Year: 2021
Collection: LCC:Genetics
Subject Terms: TRIOBP, DFNB28, variation, hearing loss, next generation sequencing, Genetics, QH426-470
More Details: 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.S391Pfs*488) 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1664-8021
Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.766973/full; https://doaj.org/toc/1664-8021
DOI: 10.3389/fgene.2021.766973
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  Data: Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
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  Data: <searchLink fieldCode="AR" term="%22Cong+Zhou%22">Cong Zhou</searchLink><br /><searchLink fieldCode="AR" term="%22Yuanyuan+Xiao%22">Yuanyuan Xiao</searchLink><br /><searchLink fieldCode="AR" term="%22Hanbing+Xie%22">Hanbing Xie</searchLink><br /><searchLink fieldCode="AR" term="%22Jing+Wang%22">Jing Wang</searchLink><br /><searchLink fieldCode="AR" term="%22Shanling+Liu%22">Shanling Liu</searchLink>
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  Data: Frontiers Media S.A., 2021.
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  Data: <searchLink fieldCode="DE" term="%22TRIOBP%22">TRIOBP</searchLink><br /><searchLink fieldCode="DE" term="%22DFNB28%22">DFNB28</searchLink><br /><searchLink fieldCode="DE" term="%22variation%22">variation</searchLink><br /><searchLink fieldCode="DE" term="%22hearing+loss%22">hearing loss</searchLink><br /><searchLink fieldCode="DE" term="%22next+generation+sequencing%22">next generation sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22QH426-470%22">QH426-470</searchLink>
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  Data: 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.S391Pfs*488) 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.
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      – Text: English
    Subjects:
      – SubjectFull: TRIOBP
        Type: general
      – SubjectFull: DFNB28
        Type: general
      – SubjectFull: variation
        Type: general
      – SubjectFull: hearing loss
        Type: general
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      – SubjectFull: Genetics
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      – SubjectFull: QH426-470
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      – TitleFull: Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
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            NameFull: Cong Zhou
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            NameFull: Shanling Liu
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