{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T16:33:39Z","timestamp":1787157219535,"version":"build-2736575974"},"reference-count":23,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T00:00:00Z","timestamp":1573344000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004775","name":"Gansu Natural Science Foundation","doi-asserted-by":"crossref","award":["1606RJZA151"],"award-info":[{"award-number":["1606RJZA151"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004775","name":"Gansu Natural Science Foundation","doi-asserted-by":"crossref","award":["1606RJZA171"],"award-info":[{"award-number":["1606RJZA171"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004775","name":"Gansu Natural Science Foundation","doi-asserted-by":"crossref","award":["18JR3RA036"],"award-info":[{"award-number":["18JR3RA036"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were evaluated by PolyPhen2 and PROVEAN software tools to evaluate possible effects on protein function.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified causative variants in the young couple: c.235delC (rs80338943)\/c.299-300delAT (rs111033204) compound heterozygous variants of GJB2 in the husband and c.1828G&gt;A (p.Glu610Lys, rs535637788)\/c.2825-2827delAGA compound heterozygous variants of LOXHD1 in the wife. The LOXHD1 c.1828G&gt;A variant has only previously been reported in a Mexican-American individual in the 1000 Genomes Project database. Using PolyPhen2 and PROVEAN, we speculated that the LOXHD1 variant c.1828G&gt;A is potentially pathogenic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We carried out molecular diagnosis in a young couple with congenital hearing loss, and identified different disease-causing genes in the two individuals. The LOXHD1 variant c.1828G&gt;A present in the wife had not previously been reported in individuals with congenital hearing loss. We determined this to be a potential pathogenic variant, and a novel variant associated with hearing loss in a Chinese individual.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060519884197","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T01:49:16Z","timestamp":1573436956000},"page":"6082-6090","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel\n                    <i>LOXHD1<\/i>\n                    variant in a Chinese couple with hearing loss"],"prefix":"10.1177","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-4830","authenticated-orcid":false,"given":"Chuan","family":"Zhang","sequence":"first","affiliation":[{"name":"Gansu Provincial Maternal and Child Health Care Hospital, Gansu Provincial Key Laboratory of Birth Defects Prevention and Control, Lanzhou, Gansu, 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