{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:12Z","timestamp":1786978212588,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T00:00:00Z","timestamp":1615852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81860190"],"award-info":[{"award-number":["81860190"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Targeted next\u2010generation sequencing is an efficient tool to identify pathogenic mutations of hereditary deafness. The molecular pathology of deaf patients in southwestern China is not fully understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this study, targeted next\u2010generation sequencing of 127 deafness genes was performed on 84 deaf patients. They were not caused by common mutations of GJB2 gene, including c.35delG, c.109 G&gt;A, c.167delT, c.176_191del16, c.235delC and c.299_300delAT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In the cohorts of 84 deaf patients, we did not find any candidate pathogenic variants in 14 deaf patients (16.7%, 14\/84). In other 70 deaf patients (83.3%, 70\/84), candidate pathogenic variants were identified in 34 genes. Of these 70 deaf patients, the percentage of \u201cSolved\u201d and \u201cUnsolved\u201d patients was 51.43% (36\/70) and 48.57% (34\/70), respectively. The most common causative genes were SLC26A4 (12.9%, 9\/70), MT\u2010RNR1 (11.4%, 8\/70), and MYO7A (2.9%, 2\/70) in deaf patients. In \u201cUnsolved\u201d patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3\/34), MYO7A (5.9%, 2\/34), OTOF (5.9%, 2\/34), and PDZD7 (5.9%, 2\/34) genes. Interesting, several novel recessive pathogenic variants were identified, like SLC26A4 c.290T&gt;G, SLC26A4 c.599A&gt;G, PDZD7c.490 C&gt;T, etc.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In addition to common deafness genes, like GJB2, SLC26A4, and MT\u2010RNR1 genes, other deafness genes (MYO7A, OTOF, PDZD7, etc.) were identified in deaf patients from southwestern China. Therefore, the spectrum of deafness genes in this area should be further studied.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1660","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T09:01:06Z","timestamp":1615885266000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Targeted next\u2010generation sequencing of deaf patients from Southwestern China"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4253-3206","authenticated-orcid":false,"given":"Yunlong","family":"Li","sequence":"first","affiliation":[{"name":"Department of Medical Genetics First People's Hospital of Yunnan Province Kunming Yunnan China"},{"name":"Affiliated Hospital of Kunming University of Science and Technology Kunming Yunnan 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