{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T12:58:49Z","timestamp":1790686729748,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004320","name":"Shiraz University of Medical Sciences","doi-asserted-by":"publisher","award":["30323"],"award-info":[{"award-number":["30323"]}],"id":[{"id":"10.13039\/501100004320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Hearing loss is one of the most common sensory disorders caused by genetic and environmental factors. Autosomal recessive non\u2010syndromic hearing loss (ARNSHL) is extremely heterogeneous, with over 100 genes known to be involved. Hearing loss can result from mutations in the LOXHD1 gene, which codes a highly conserved protein known as lipoxygenase and is located at 18q21.1. Despite the association between LOXHD1 mutations and ARNSHL, there are still few documented cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We examined a case of non\u2010syndromic hearing loss in an Iranian family with a history of consanguinity and several affected siblings. Next\u2010generation sequencing (NGS) was conducted on the proband to discover causal genetic alterations. Sanger sequencing was employed to confirm the identified variation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A novel likely pathogenic variant in the LOXHD1 gene, c.3713dupA (p.Asp1238Glufs*10), was identified. Sanger sequencing was used to confirm that the affected family members had this frameshift mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings broaden the mutational range of LOXHD1 linked to ARNSHL. This unique variant enhances the comprehension of the genetic underpinnings of hearing loss and may aid in molecular diagnostics and genetic counseling for impacted families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.70327","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:09:07Z","timestamp":1787119747000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole Exome Sequencing Identified a Novel Mutation in the\n                    <scp>\n                      <i>LOXHD1<\/i>\n                    <\/scp>\n                    Gene in Consanguineous Iranian Families With Hearing Loss"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4691-0997","authenticated-orcid":false,"given":"Solmaz Hassani Fard","family":"Katiraei","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milad","family":"Gholami","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genetics, School of Medicine Arak University of Medical Sciences  Arak Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohsen","family":"Soosanabadi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Semnan University of Medical Sciences  Semnan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2608-464X","authenticated-orcid":false,"given":"Mona","family":"Entezam","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4781-301X","authenticated-orcid":false,"given":"Seyed Alireza","family":"Dastgheib","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,18]]},"reference":[{"key":"e_1_2_10_2_1","unstructured":"World Health Organization \u201cWorld Report on Hearing \u201dhttps:\/\/www.who.int\/publications\/i\/item\/world\u2010report\u2010on\u2010hearing."},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.22579"},{"key":"e_1_2_10_4_1","first-page":"1","article-title":"Phenotypic Heterogeneity of Post\u2010Lingual and\/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation","volume":"9","author":"Wang H.","year":"2021","journal-title":"Frontiers in Cell and Developmental Biology"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1648-8"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049984"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02448-7"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.genrep.2021.101149"},{"key":"e_1_2_10_9_1","unstructured":"J. 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