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A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

BACKGROUND: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among t...

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Autores principales: Zhou, Bingxin, Yu, Lili, Wang, Yan, Shang, Wenjing, Xie, Yi, Wang, Xiong, Han, Fengchan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268695/
https://www.ncbi.nlm.nih.gov/pubmed/32487028
http://dx.doi.org/10.1186/s12881-020-01055-5
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author Zhou, Bingxin
Yu, Lili
Wang, Yan
Shang, Wenjing
Xie, Yi
Wang, Xiong
Han, Fengchan
author_facet Zhou, Bingxin
Yu, Lili
Wang, Yan
Shang, Wenjing
Xie, Yi
Wang, Xiong
Han, Fengchan
author_sort Zhou, Bingxin
collection PubMed
description BACKGROUND: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among them, TRIOBP-5/− 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia. METHODS: The proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proband and Sanger sequencing was conducted on the DNA samples of the four family members. RESULTS: Tests of pure tone hearing thresholds showed a severe to profound symmetric hearing loss for the proband and her younger brother. Moreover, a novel TRIOBP c.1342C > T (p.Arg448*) variant was identified by WES in the DNA sample of the proband and confirmed by Sanger sequencing in DNA of the family members. CONCLUSIONS: The TRIOBP c.1342C > T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided.
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spelling pubmed-72686952020-06-08 A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family Zhou, Bingxin Yu, Lili Wang, Yan Shang, Wenjing Xie, Yi Wang, Xiong Han, Fengchan BMC Med Genet Research Article BACKGROUND: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among them, TRIOBP-5/− 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia. METHODS: The proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proband and Sanger sequencing was conducted on the DNA samples of the four family members. RESULTS: Tests of pure tone hearing thresholds showed a severe to profound symmetric hearing loss for the proband and her younger brother. Moreover, a novel TRIOBP c.1342C > T (p.Arg448*) variant was identified by WES in the DNA sample of the proband and confirmed by Sanger sequencing in DNA of the family members. CONCLUSIONS: The TRIOBP c.1342C > T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided. BioMed Central 2020-06-01 /pmc/articles/PMC7268695/ /pubmed/32487028 http://dx.doi.org/10.1186/s12881-020-01055-5 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Zhou, Bingxin
Yu, Lili
Wang, Yan
Shang, Wenjing
Xie, Yi
Wang, Xiong
Han, Fengchan
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title_full A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title_fullStr A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title_full_unstemmed A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title_short A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
title_sort novel mutation in triobp gene leading to congenital deafness in a chinese family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268695/
https://www.ncbi.nlm.nih.gov/pubmed/32487028
http://dx.doi.org/10.1186/s12881-020-01055-5
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