{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T07:05:30Z","timestamp":1793171130650,"version":"4.5.0"},"reference-count":21,"publisher":"S. Karger AG","issue":"3-6","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Objectives:<\/i><\/b> Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSHL and rare 48,XXYY Klinefelter syndrome. <b><i>Material and Methods:<\/i><\/b> Genomic DNA was extracted from the peripheral blood of the proband and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the variants was analyzed using bioinformatics software. <b><i>Results:<\/i><\/b> The proband was digenic heterozygous for p.V37I in the <i>GJB2<\/i> gene and p.L347I in the <i>MYO7A<\/i> gene. The proband\u2019s mother had normal hearing and did not have any variant. The proband\u2019s father and uncle both had NSHL and were compound for the <i>GJB2<\/i> p.V37I and <i>MYO7A<\/i> p.L347I variants, thus indicating a possible <i>GJB2\/MYO7A<\/i> digenic inheritance of NSHL. 48,XXYY Klinefelter syndrome was discovered in the proband after the karyotype analysis, while his parents both had normal karyotypes. <b><i>Conclusions:<\/i><\/b> Our findings reported a putative <i>GJB2\/MYO7A<\/i> digenic inheritance form of hearing loss, expanding the genotype and phenotype spectrum of NSHL. In addition, this is the first report of concomitant NSHL and 48,XXYY syndrome. <\/jats:p>","DOI":"10.1159\/000516854","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T21:00:46Z","timestamp":1625086846000},"page":"117-124","source":"Crossref","is-referenced-by-count":4,"title":["Putative Digenic <b><i>GJB2\/MYO7A<\/i><\/b> Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome"],"prefix":"10.1159","volume":"85","author":[{"given":"Qin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiantian","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmu","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad\u00a0Usman","family":"Janjua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0390183"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.22592"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0602-9"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000003029"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2017.03.001"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-7-26"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2019.01.036"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-008-0641-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/cne.21113"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01407.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24332"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12387"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1055\/a-0573-9431"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-013-2851-5"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2019.02.021"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00539.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-2018-9"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32366"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2015.04.009"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1080\/00016489.2019.1603397"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:59:32Z","timestamp":1745420372000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000516854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":21,"journal-issue":{"issue":"3-6","published-online":{"date-parts":[[2021,7,20]]},"published-print":{"date-parts":[[2021,9,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000516854","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"value":"0001-5652","type":"print"},{"value":"1423-0062","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}