scholarly journals Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

2011 ◽  
Vol 155 (5) ◽  
pp. 1202-1211 ◽  
Author(s):  
Niloofar Bazazzadegan ◽  
Abraham M. Sheffield ◽  
Masoomeh Sobhani ◽  
Kimia Kahrizi ◽  
Nicole C. Meyer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
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 rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Haihua Bai ◽  
Xukui Yang ◽  
Temuribagen ◽  
Guilan ◽  
Suyalatu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Nonsyndromic Hearing Loss

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 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 Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 177S-183S ◽  
Author(s):  
Hideaki Moteki ◽  
Hela Azaiez ◽  
Kevin T. Booth ◽  
Mitsuru Hattori ◽  
Ai Sato ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Myopathy ◽  
Massively Parallel Sequencing ◽  
Novel Mutation ◽  
Massively Parallel ◽  
Nonsyndromic Hearing Loss ◽  
Potential Explanation ◽  
Atp Production ◽  
First Case ◽  
Targeted Genomic Enrichment

Objectives: We present a family with a mitochondrial DNA 3243A>G mutation resulting in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss in which a novel mutation in the P2RX2 gene was identified. Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic causes of hearing loss. Results: A novel mutation in the P2RX2 gene that corresponded to c.601G>A (p.Asp201Tyr) was identified. Two patients carried the mutation and had severe sensorineural hearing loss, while other members with MELAS (who did not carry the P2RX2 mutation) had normal hearing. Conclusion: This is the first case report of a diagnosis of hearing loss caused by P2RX2 mutation in patients with MELAS. A potential explanation is that a decrease in adenosine triphosphate (ATP) production due to MELAS with a mitochondrial 3243A>G mutation might suppress activation of P2X2 receptors. We also suggest that hearing loss caused by the P2RX2 mutation might be influenced by the decrease in ATP production due to MELAS.

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

ORL ◽  
2020 ◽  
Vol 82 (4) ◽  
pp. 181-187
Author(s):  
Jiawen Lu ◽  
Penghui Chen ◽  
Tuanjie Chen ◽  
Lin Li ◽  
Xiaoli Fu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Nonsyndromic Hearing Loss
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