{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Usami SI"],"funding":["japan agency for medical research and development","ministry of health, labour and welfare","Versus Arthritis","japan society for the promotion of science"],"pagination":["665-681"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9035015"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["141(3-4)"],"pubmed_abstract":["Etiological studies have shown genetic disorders to be a major cause of sensorineural hearing loss, but there are a limited number of comprehensive etiological reports based on genetic analysis. In the present study, the same platform using a diagnostic DNA panel carrying 63 deafness genes and the same filtering algorithm were applied to 10,047 samples obtained from social health insurance-based genetic testing of hearing loss. The most remarkable result obtained in this comprehensive study was that the data first clarified the genetic epidemiology from congenital/early-onset deafness to late-onset hearing loss. The overall diagnostic rate was 38.8%, with the rate differing for each age group; 48.6% for the congenital/early-onset group (~5y.o.), 33.5% for the juvenile/young adult-onset gro"],"journal":["Human genetics"],"pubmed_title":["The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients."],"pmcid":["PMC9035015"],"funding_grant_id":["16kk0205010h0001","15H02565","18kk0205010h0003","FC001048","H29-Nanchitou(Nan)-Ippan-031","19ek0109363h0002","20ek0109363h0003","18ek0109363h0001","17kk0205010h0002","17ek0109114h0003","20FC1048"],"pubmed_authors":["Usami SI","Nishio SY"],"additional_accession":[]},"is_claimable":false,"name":"The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.","description":"Etiological studies have shown genetic disorders to be a major cause of sensorineural hearing loss, but there are a limited number of comprehensive etiological reports based on genetic analysis. In the present study, the same platform using a diagnostic DNA panel carrying 63 deafness genes and the same filtering algorithm were applied to 10,047 samples obtained from social health insurance-based genetic testing of hearing loss. The most remarkable result obtained in this comprehensive study was that the data first clarified the genetic epidemiology from congenital/early-onset deafness to late-onset hearing loss. The overall diagnostic rate was 38.8%, with the rate differing for each age group; 48.6% for the congenital/early-onset group (~5y.o.), 33.5% for the juvenile/young adult-onset gro","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-04T20:50:44.224Z","creation":"2025-04-04T20:50:44.224Z"},"accession":"S-EPMC9035015","cross_references":{"pubmed":["34599366"],"doi":["10.1007/s00439-021-02371-3"]}}