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A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

OBJECTIVE: Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. METHODS: A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT...

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Autores principales: Huang, Bang-qing, Zeng, Jia-ling, Yuan, Yong-yi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chinese PLA General Hospital 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002573/
https://www.ncbi.nlm.nih.gov/pubmed/29937786
http://dx.doi.org/10.1016/j.joto.2015.09.004
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author Huang, Bang-qing
Zeng, Jia-ling
Yuan, Yong-yi
Dai, Pu
author_facet Huang, Bang-qing
Zeng, Jia-ling
Yuan, Yong-yi
Dai, Pu
author_sort Huang, Bang-qing
collection PubMed
description OBJECTIVE: Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. METHODS: A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband's peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. RESULTS: The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation (c.530C > A (p.S177X)) in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. CONCLUSION: Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.
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spelling pubmed-60025732018-06-22 A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss Huang, Bang-qing Zeng, Jia-ling Yuan, Yong-yi Dai, Pu J Otol Original article OBJECTIVE: Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. METHODS: A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband's peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. RESULTS: The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation (c.530C > A (p.S177X)) in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. CONCLUSION: Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene. Chinese PLA General Hospital 2015-06 2015-09-30 /pmc/articles/PMC6002573/ /pubmed/29937786 http://dx.doi.org/10.1016/j.joto.2015.09.004 Text en Copyright © 2015, PLA General Hospital Department of Otolaryngology Head and Neck Surgery. Production and hosting by Elsevier (Singapore) Pte Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Original article
Huang, Bang-qing
Zeng, Jia-ling
Yuan, Yong-yi
Dai, Pu
A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title_full A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title_fullStr A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title_full_unstemmed A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title_short A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss
title_sort novel mutation in pou3f4 in a chinese family with x-linked non-syndromic hearing loss
topic Original article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002573/
https://www.ncbi.nlm.nih.gov/pubmed/29937786
http://dx.doi.org/10.1016/j.joto.2015.09.004
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