A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family-Reference-Cited by-同舟云学术

A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family

Published:2018-04-17 Issue:7 Volume:32 Page:e22444
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Shi Xi¹²,Zhang Yan³,Qiu Shiwei¹,Zhuang Wei⁴,Yuan Na¹,Sun Tiantian¹,Gao Jian⁵,Qiao Yuehua⁴,Liu Ke²^ORCID

Affiliation:

1. The Institute of Audiology and Balance science of Xuzhou Medical University; Xuzhou China

2. Department of Otolaryngology-Head and Neck Surgery; Beijing Friendship Hospital; Capital Medical University; Beijing China

3. Department of Otolaryngology-Head and neck surgery; The first Hospital of JiLin University; Changchun China

4. Clinical Hearing Center of Affliated Hospital of Xuzhou Medical University; Xuzhou China

5. Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy; Xuzhou Medical University; Xuzhou China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Jiangsu Province

Natural Science Foundation of Jilin Province

Clinical Special Fund of Jiangsu Province

China Postdoctoral Science Foundation

Six Major Categories Talent

Innovation and Entrepreneurship Training Program for College Students in Jiangsu Province

Colleges and universities Foundation in Jiangsu Province

National Natural Science Foundation of Xuzhou

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jcla.22444/fullpdf

Reference23 articles.

1. Genetics, genomics and gene discovery in the auditory system;Morton;Hum Mol Genet,2002

2. Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss;Choi;Hum Mutat,2009

3. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population;Gabriel;Hum Mutat,2001

4. A genotype-phenotype correlation for GJB2 (connexin 26) deafness;Cryns;J Med Genet,2004

5. Long-lasting changes in the cochlear K+ recycling structures after acute energy failure;Takiguchi;Neurosci Res,2013

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