scholarly journals A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Mingming Wang ◽  
Yicui Zhou ◽  
Fengguo Zhang ◽  
Zhaomin Fan ◽  
Xiaohui Bai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss

scholarly journals A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing Loss

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Chi Zhang ◽  
Mingming Wang ◽  
Yun Xiao ◽  
Fengguo Zhang ◽  
Yicui Zhou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Stop Codon ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss ◽  
Truncated Protein

POU4F3gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations ofPOU4F3have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located inPOU4F3in a four-generation Chinese family. Target region capture sequencing was performed to search for the candidate mutations from 81 genes related to nonsyndromic hearing loss in this family. A novel nonsense mutation ofPOU4F3, c.337C>T (p.Gln113⁎), was identified in a Chinese family characterized by late-onset progressive nonsyndromic hearing loss. The novel mutation cosegregated with hearing loss in this family and was absent in 200 ethnicity-matched controls. The mutation led to a stop codon and thus a truncated protein with no functional domains remained. Transient transfection and immunofluorescence assay revealed that the subcellular localization of the truncated protein differed markedly from normal protein, which could be the underlying reason for complete loss of its normal function. Here, we report the first nonsense mutation ofPOU4F3associated with progressive hearing loss and explored the possible underlying mechanism. Routine examination ofPOU4F3is necessary for the genetic diagnosis of hereditary hearing loss in the future.

scholarly journals A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e89240 ◽  
Author(s):  
Yu Su ◽  
Wen-Xue Tang ◽  
Xue Gao ◽  
Fei Yu ◽  
Zhi-Yao Dai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss

scholarly journals A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Xue Gao ◽  
Jin-Cao Xu ◽  
Wei-Qian Wang ◽  
Yong-Yi Yuan ◽  
Dan Bai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
Bioinformatic Analysis ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss ◽  
Family Routine ◽  
Targeted Capture ◽  
Normal Controls

Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. In this study, we describe a pathogenic missense mutation in POU4F3 in a four-generation Chinese family (6126) with midfrequency, progressive, and postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining targeted capture of 129 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified POU4F3 c.602T>C (p.Leu201Pro) as the disease-causing variant. This variant cosegregated with hearing loss in other family members but was not detected in 580 normal controls or the ExAC database and could be classified as a “pathogenic variant” according to the American College of Medical Genetics and Genomics guidelines. We conclude that POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss in this family. Routine examination of POU4F3 is necessary for the genetic diagnosis of midfrequency hearing loss.

scholarly journals A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3

1999 ◽  
Vol 65 (1) ◽  
pp. 141-150 ◽  
Author(s):  
Kunihiro Fukushima ◽  
Norio Kasai ◽  
Yasuyoshi Ueki ◽  
Kazunori Nishizaki ◽  
Kennichi Sugata ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss

scholarly journals A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

PLoS ONE ◽  
2017 ◽  
Vol 12 (5) ◽  
pp. e0178384 ◽  
Author(s):  
Zhijie Niu ◽  
Yong Feng ◽  
Lingyun Mei ◽  
Jie Sun ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Frameshift Mutation ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss ◽  
Rare Form

scholarly journals Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Jinying Li ◽  
Hongen Xu ◽  
Jianfeng Sun ◽  
Yongan Tian ◽  
Danhua Liu ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Missense Variant ◽  
Normal Subjects ◽  
Pathogenic Variant ◽  
Chinese Family ◽  
Missense Variants ◽  
Wfs1 Gene

Objective. Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genotype-phenotype correlation of WFS1 variants. Methods. The clinical phenotype of the five-generation Chinese family was characterized using audiological examinations and pedigree analysis. Target exome sequencing of 129 known deafness genes and bioinformatics analysis were performed among six patients and four normal subjects to screen suspected pathogenic variants. We built a complete WFS1 protein model to assess the potential effects of the variant on protein structure. Results. A novel heterozygous pathogenic variant NM_006005.3 c.2020G>T (p.Gly674Trp) was identified in the WFS1 gene, located in the C-terminal domain of the wolframin protein. We further showed that HL-related WFS1 missense variants were mainly concentrated in the endoplasmic reticulum (ER) domain. In contrast, WS-related missense variants are randomly distributed throughout the protein. Conclusions. In this family, we identified a novel variant p.Gly674Trp of WFS1 as the primary pathogenic variant causing the low-frequency sensorineural HL, enriching the mutational spectrum of the WFS1 gene.

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