{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T10:08:35Z","timestamp":1773828515466,"version":"3.50.1"},"reference-count":55,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and syndromic HI (SHI) families with \u2265\u20092 affected members were analyzed. Exome and sanger sequencing were used to identify causal genes. For NSHI, 14 of 24 families segregated variants in NSHI genes, that is,\n                    <jats:italic>CDH23<\/jats:italic>\n                    ,\n                    <jats:italic>GJB2<\/jats:italic>\n                    ,\n                    <jats:italic>MITF<\/jats:italic>\n                    ,\n                    <jats:italic>MYO7A, MYO15A<\/jats:italic>\n                    ,\n                    <jats:italic>PCDH15<\/jats:italic>\n                    ,\n                    <jats:italic>POU3F4<\/jats:italic>\n                    ,\n                    <jats:italic>REST<\/jats:italic>\n                    ,\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    ,\n                    <jats:italic>TMPRSS3<\/jats:italic>\n                    , and\n                    <jats:italic>WFS1<\/jats:italic>\n                    . For the 21 SHI families, 14 have Waardenburg syndrome, two Branchio\u2010Oto\u2010Renal syndromes, and one each with Bartter, Chudley\u2010McCullough, Deafness\u2010Albinism, MYH9\u2010related disorder, and Pendred syndromes. The cause of SHI was determined for 14 families, with\n                    <jats:italic>EDN3<\/jats:italic>\n                    ,\n                    <jats:italic>EDNRB<\/jats:italic>\n                    ,\n                    <jats:italic>GPSM2<\/jats:italic>\n                    ,\n                    <jats:italic>MITF<\/jats:italic>\n                    ,\n                    <jats:italic>MYH9<\/jats:italic>\n                    ,\n                    <jats:italic>SLC12A1<\/jats:italic>\n                    , and\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    underlying the syndrome in a single family,\n                    <jats:italic>EYA1<\/jats:italic>\n                    in two families, and\n                    <jats:italic>PAX3<\/jats:italic>\n                    in five families. For the NSHI and SHI genes, 52.9% and 35.7% of the variants, respectively, have not been reported in disease etiology. Additionally, two Waardenburg families segregated variants in NSHI genes,\n                    <jats:italic>BDP1<\/jats:italic>\n                    and\n                    <jats:italic>MYO6<\/jats:italic>\n                    , but these findings need to be validated. This study enhances the understanding of the genetic landscape of HI in South Africa, revealing a high level of locus and allelic heterogeneity. Studying diverse populations provides new insights into HI etiology that, in turn, can improve genetic diagnosis and personalized management.\n                  <\/jats:p>","DOI":"10.1111\/cge.14765","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T08:16:31Z","timestamp":1747296991000},"page":"511-520","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Diverse Genetic Landscape of Hearing Impairment in South African Families"],"prefix":"10.1111","volume":"108","author":[{"given":"Thashi","family":"Bharadwaj","sequence":"first","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. 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