A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing

2015 ◽  
Vol 60 (6) ◽  
pp. 299-304 ◽  
Author(s):  
Yi Sun ◽  
Zhao Zhang ◽  
Jing Cheng ◽  
Yu Lu ◽  
Chang-Liang Yang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Targeted Exome Sequencing

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

2018 ◽  
Vol 63 (6) ◽  
pp. 723-730 ◽  
Author(s):  
Yuyuan Deng ◽  
Zhijie Niu ◽  
LiangLiang Fan ◽  
Jie Ling ◽  
Hongsheng Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family

scholarly journals Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene

2011 ◽  
Vol 137 (1) ◽  
pp. 54 ◽  
Author(s):  
Jameson Arnett ◽  
Sarah B. Emery ◽  
Theresa B. Kim ◽  
Angelique K. Boerst ◽  
Kwanghyuk Lee ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Sensorineural Hearing

A Novel Mutation of POU3F4 Causes Congenital Profound Sensorineural Hearing Loss in a Large Chinese Family

2006 ◽  
pp. 944-950 ◽  
Author(s):  
Qiu-Ju Wang ◽  
Qing-Zhong Li ◽  
Shao-Qi Rao ◽  
Ya-Li Zhao ◽  
Hu Yuan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family

scholarly journals Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

2018 ◽  
Vol 55 (5) ◽  
pp. 298-306 ◽  
Author(s):  
Xue Gao ◽  
Yong-Yi Yuan ◽  
Qiong-Fen Lin ◽  
Jin-Cao Xu ◽  
Wei-Qian Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Mrna Level ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Interferon Lambda ◽  
Tyrosine Kinase 2 ◽  
Morpholino Knockdown

Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder.Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL).Methods Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Inner ear expression of Ifnlr1 was investigated by immunostaining in mice. ifnlr1 Morpholino knockdown Zebrafish were constructed to explore the deafness mechanism.Results We identified a cosegregating heterozygous missense mutation, c.296G>A (p.Arg99His) in the gene encoding interferon lambda receptor 1 (IFNLR1) – a protein that functions in the Jak/ STAT pathway– are associated with ADNSHL. Morpholino knockdown of ifnlr1 leads to a significant decrease in hair cells and non-inflation of the swim bladder in late-stage zebrafish, which can be reversed by injection with normal Zebrafish ifnlr1 mRNA. Knockdown of ifnlr1 in zebrafish causes significant upregulation of cytokine receptor family member b4 (interleukin-10r2), jak1, tyrosine kinase 2, stat3, and stat5b in the Jak1/STAT3 pathway at the mRNA level.ConclusionIFNLR1 function is required in the auditory system and that IFNLR1 mutations are associated with ADNSHL. To the best of our knowledge, this is the first study implicating an interferon lambda receptor in auditory function.

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

2010 ◽  
Vol 16 (2) ◽  
pp. 93-105 ◽  
Author(s):  
Anne-Martine R. de Heer ◽  
Rob W.J. Collin ◽  
Patrick L.M. Huygen ◽  
Margit Schraders ◽  
Jaap Oostrik ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Vestibular Function ◽  
Sensorineural Hearing
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