Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations

Abstract

Conclusion: To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural hearing loss (NSHL) family. Our data indicate that the PJVK gene contributes to hearing impairment in the Chinese population, but it is not a major cause. Objective: To investigate the contribution of PJVK mutations to NSHL in the Chinese population. Methods: We screened for the PJVK gene in a sample of 65 autosomal recessive NSHL families without GJB2, SLC26A4, or mitochondrial 12S rRNA gene mutations. Seven pairs of PCR primers were designed to amplify all of the exons and their flanking regions of the PJVK gene. The PCR products were sequenced and analyzed for identification of mutations. Results: In all, we identified one novel frameshift mutation, c.930_931del AC (p.C312W fsX19), co-segregating with the phenotype in one consanguineous family with a prevalence of 1.5% (1/65). The p.C312W fsX19 mutation was just positioned in the zinc-fingers domain, which was important to the function of pejvakin, and resulted in a stop codon after 19 additional amino acids. It was not identified in the controls and was considered as the causative mutation of family 804566 with autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment.

Keywords:

• DFNB59
• pejvakin
• deafness
• ARNSHI

Acknowledgments

We thank the patients and their families for their cooperation during this work. We also thank the technicians in the Clinical Auditory Medicine Center at the Chinese PLA Institute of Otolaryngology for their technical support, and Wei Sun, Adam Sheppard, and Sarah Hayes from the Department of Communicative Disorders and Sciences, University at Buffalo for their help in revising this manuscript. This work was supported by grants from the National Key Basic Research Program of China, no. 2014CB943001, the National Natural Science Foundation of China, Major Project, no. 81120108009.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.