Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

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...

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Bibliographic Details
Published inPloS one Vol. 11; no. 12; p. e0166781
Main Authors Iwasa, Yoh-Ichiro, Nishio, Shin-Ya, Usami, Shin-Ichi
Format Journal Article
LanguageEnglish
Published United States Public Library of Science 02.12.2016
Public Library of Science (PLoS)
Subjects
Analysis
Asian Continental Ancestry Group
Assaying
Biology and Life Sciences
Deafness
Deoxyribonucleic acid
DNA
DNA sequencing
Female
Gene sequencing
Genes
Genes, Dominant
Genetic analysis
Genetic aspects
Genetic Diseases, Inborn - genetics
Genetic screening
Genetic Testing
Genomes
Genotyping
Genotyping Techniques
Hearing impairment
Hearing loss
Hearing Loss, Sensorineural - genetics
Hearing protection
Hospitals
Humans
Japan
Male
Medicine
Medicine and Health Sciences
Mutation
Otolaryngology
Patients
Research and Analysis Methods
Risk factors
Screening
Japan
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Summary: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). 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. A total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant. 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.
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Competing Interests: The authors have declared that no competing interests exist.
Conceptualization: SU. Data curation: SN. Formal analysis: SN. Funding acquisition: SU. Investigation: SN. Methodology: SN SU. Project administration: SU. Resources: SU. Software: SN. Supervision: SU. Validation: YI SN SU. Visualization: YI SN. Writing – original draft: YI. Writing – review & editing: SN SU.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0166781