Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

PLoS One. 2016 Dec 2;11(12):e0166781. doi: 10.1371/journal.pone.0166781. eCollection 2016.


Background: In general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS).

Subjects and methods: Seventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study. We conducted genetic analysis of 75 ADSNHL patients using the Invader assay, TaqMan genotyping assay and MPS-based genetic screening.

Results: A total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant.

Conclusion: We were able to achieve a high mutation detection rate through the combination of the Invader assay, TaqMan genotyping assay and MPS. MPS could be used to successfully identify mutations in rare deafness genes.

Publication types

  • Clinical Trial
  • Multicenter Study

MeSH terms

  • Asian People
  • Female
  • Genes, Dominant*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing
  • Genotyping Techniques
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Japan
  • Male

Grants and funding

This study was grant aided by a Health, Labour and Welfare of Japan Scientific Research Grant (H25-Kankaku-Ippan-002), Japan Agency for Medical Research and Development (15dk0310011h0003), and a Grant-in-Aid for Scientific Research (A) (15H02565) from the Ministry of Education, Science and Culture of Japan. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.