Research ID
hum0005-v3Release info
This page is a past version (v3). The latest version is v8.
Latest version (v8)Research title
Genetic Analysis of Hearing Loss and Its Clinical Application
Research overview
- Aims
- To identify the causative gene mutation of hearing impairment including non-syndromic hearing loss, syndromic hearing loss, and inner, middle, outer ear malformation.
- Methods
- Massively Parallel DNA Sequencing was performed with an Ion Torrent Personal Genome Machine (PGM), Ion Proton or Ion S5 system using the Ion PGM 200, Proton HiQ Sequencing Kit and Ion 318 Chip or Ion P1 chip (Thermo Fisher Scientific) or 540 chip chef kit (S5) or HiSeq 2000 system (Illumina).
- Participants/materials
- Usher Syndrome: 17 patients
Non-usher syndrome: 39 patients (Controlled-access) + 5 patients (Unrestricted-access) + 19 patients (Controlled-access) + 19 patients (Controlled-access) + 39 patients (Controlled-access) + 1 patient (Controlled-access) + 28 patients (Controlled-access) + 7 patient (Controlled-access) + 26 patients (Controlled-access) + 15 patients (Controlled-access) + 2969 patients (Controlled-access) - URL
- N/A
Datasets
The list is the one this version published; each dataset's content is shown as it is now.
| Cart | Dataset ID | Type of data | Analysis method | Access criteria | Date published |
|---|---|---|---|---|---|
| DRA001273 | NGS (Target Capture: Nine genes) |
| Unrestricted-access | 2014-01-06 | |
| JGAD000032 | NGS (Target Capture) |
| Controlled-access (Type I) | 2020-09-28 | |
| JGAD000093 | NGS (Target Capture) |
| Controlled-access (Type I) | 2020-09-28 | |
| DRA003791 | NGS (Target Capture) |
| Unrestricted-access | 2015-10-01 |
Data provider
- Principal investigator
- Shin-ichi Usami
- Affiliation
- Department of Hearing Implant Sciences, Shinshu University School of Medicine
Research projects
No research projects.
Grants
| Name | Title | Project number |
|---|---|---|
Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development | Development of evidence based treatments for inherited hearing loss |
|
Program for an Integrated Database of Clinical and Genomic Information, Japan Agency for Medical Research and Development | Development of unified data storage (DS) of clinical and genomic information for sensory disorders |
|
Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development | Development of evidence based clinical management for hereditary hearing loss. |
|
Health and Labour Sciences Research Grant for Comprehensive Research on Disability Health and Welfare | Research and Survey for Intractable Hearing Loss |
|
Research and Development Grants for Comprehensive Research for Persons with Disabilities, Japan Agency for Medical Research and Development | Research on building a treatment and rehabilitation system for childhood hearing loss based on causal diagnosis. |
|
Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development | Development of evidence based clinical management for syndromic hearing loss. |
|
Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases | Research and Survey for Usher syndrome |
|
Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases | Research and Survey for Inherited Hearing Loss and Inner-, Middle- and Outer Ear Malfolmation |
|
Health and Labour Sciences Research Grant for Comprehensive Research on Disability Health and Welfare | Development and Clinical Application of NGS Based Genetic Testing for Deafness |
|
Health and Labour Sciences Research Grant for Comprehensive Research on Disability Health and Welfare | Research and Survey for Intractable Hearing Loss |
|
Health and Labour Sciences Research Grant for Comprehensive Research on Disability Health and Welfare | Research and Survey for Intractable Hearing Loss |
|
Related publications
| Title | DOI | Dataset ID |
|---|---|---|
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. | ||
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. | ||
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. | ||
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss | ||
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. | ||
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. | ||
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. | ||
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. | ||
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. | ||
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss. | ||
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. | ||
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel. | ||
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. | ||
Frequency and clinical features of hearing loss caused by STRC deletions. | ||
Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss. | ||
Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation. | ||
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. | ||
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. | ||
Genetic background in late-onset sensorineural hearing loss patients. | ||
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K. | ||
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. | ||
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. | ||
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. | ||
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss. | ||
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss. | ||
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss. | ||
Prevalence and clinical features of hearing loss caused by EYA4 variants. | ||
Cochlear Implantation From the Perspective of Genetic Background. |
Controlled access users
| Principal investigator | Affiliation | Country/Region | Research title | Period of data use | Dataset ID |
|---|---|---|---|---|---|
| Satoshi Yuhara | SRL inc./ H.U. Group Research Institute G.K. | Japan | Validation of Rare Disease Clinical Reporting System | 2024-07-01 – 2026-07-01 |