{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T01:27:22Z","timestamp":1777426042171,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ann Otol Rhinol Laryngol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Case reports and review of literatures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In this study, the proband was a 32-year-old woman seeking pre-marriage genetic counseling with non-syndromic congenital hearing loss. An owing negative test for GJB2 mutations, she underwent exome sequencing, unveiling a novel homozygous exon 2 deletion of the GRXCR1 gene. This mutation was confirmed in her affected mother and sibling by PCR and Quantitative Real-Time PCR.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We identified a novel GRXCR1 gene mutation related to congenital hearing loss in a family. Our study highlights the efficiency of exome sequencing in discovering gene mutations in cases of diseases with genetic heterogeneity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/00034894231161866","type":"journal-article","created":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T05:14:04Z","timestamp":1680498844000},"page":"1493-1495","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Exon 2 Deletion Mutation in the\n                    <i>GRXCR1<\/i>\n                    Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures"],"prefix":"10.1177","volume":"132","author":[{"given":"Hadith","family":"Rastad","sequence":"first","affiliation":[{"name":"Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3667-8142","authenticated-orcid":false,"given":"Parham","family":"Samimisedeh","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahram","family":"Savad","sequence":"additional","affiliation":[{"name":"Genome-Nilou Laboratory, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahnaz","family":"Seifi Alan","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"bibr1-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a033258"},{"key":"bibr2-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.017"},{"key":"bibr3-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415575061"},{"key":"bibr4-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23666"},{"key":"bibr5-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.917"},{"key":"bibr6-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"bibr7-00034894231161866","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.016"}],"container-title":["Annals of Otology, Rhinology &amp; Laryngology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00034894231161866","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/00034894231161866","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00034894231161866","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:30:30Z","timestamp":1777375830000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.sagepub.com\/doi\/10.1177\/00034894231161866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,3]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1177\/00034894231161866"],"URL":"https:\/\/doi.org\/10.1177\/00034894231161866","relation":{},"ISSN":["0003-4894","1943-572X"],"issn-type":[{"value":"0003-4894","type":"print"},{"value":"1943-572X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,3]]}}}