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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chinese PLA General Hospital
2015
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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. |
format | Online Article Text |
id | pubmed-6002573 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Chinese PLA General Hospital |
record_format | MEDLINE/PubMed |
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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