Study: JGAS00000000166




TitleOTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
AbstractThe OTOF gene, encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS) to reveal the frequency and clinical characteristics of OTOF-related hearing loss in a large hearing loss population.
Study Type
Study TypeCase Set


Grant 1
TitleDevelopment of the unified data storage of clinical and genomic information for sensory disorders.
AgencyJapan Agency for Medical Research and Development (AMED)
Grant ID16
Grant 2
TitleDevelopment of evidence based clinical management for hereditary hearing loss.
AgencyJapan Agency for Medical Research and Development (AMED)
Grant ID19

Study Attribute

NBDC Numberhum0005
Registration date2019-03-25
Submitting organizationShinshu University School of Medicine
Principal InvestigatorShin-ichi Usami
Molecular Data TypeTarget resequencing
PlatformIon PGM, Ion Proton
VendorThermo Fisher Scientific
Molecular Data TypeTarget resequencing
Accession Title Dataset type Data objects Policy
JGAD00000000244 OTOF mutation screening in Japanese hearing loss patients. 42 JGAP00000000001