Identification of a novel missense mutation in theWFS1gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies-Reference-Cited by-同舟云学术

Identification of a novel missense mutation in theWFS1gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies

Published:2014-09-23 Issue:12 Volume:164 Page:3052-3060
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bai Xiaohui¹²,Lv Huaiqing¹³,Zhang Fengguo¹²,Liu Jinzhi³,Fan Zhaomin¹²,Xu Lei¹²,Han Yuhang¹²,Chai Renjie⁴,Li Jianfeng¹²,Wang Haibo¹²

Affiliation:

1. Department of Otorhinolaryngology Head and Neck Surgery; Provincial Hospital Affiliated to Shandong University; Jinan P.R. China

2. Shandong Provincial Key Laboratory of Otology; Jinan P.R. China

3. Department of Otorhinolaryngology Head and Neck Surgery; People's Hospital of Linyi; Linyi P.R. China

4. Key Laboratory for Developmental Genes and Human Disease; Ministry of Education; Institute of Life Sciences; Southeast University; Nanjing China

Funder

the National 973 Basic Research Program of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36760/fullpdf

Reference30 articles.

1. Wolfram syndrome: New mutations, different phenotype;Aloi;PLoS One,2012

2. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss;Bespalova;Hum Mol Genet,2001

3. A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings;Bramhall;BMC Med Genet,2008

4. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc Natl Acad Sci U S A,2009

5. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations;Cryns;Hum Genet,2002

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

2. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome;BMC Medical Genomics;2023-04-11

3. Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness;Scientific Reports;2022-12-23

4. Loxhd1b inhibits the hair cell development in zebrafish: Possible relation to the BDNF/TrkB/ERK pathway;Frontiers in Cellular Neuroscience;2022-11-24

5. Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy;Frontiers in Genetics;2022-11-21