{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:53Z","timestamp":1790168753662,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","award":["129779"],"award-info":[{"award-number":["129779"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","award":["106948"],"award-info":[{"award-number":["106948"]}],"id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the\n TCOF1<\/jats:italic>\n ,\n POLR1D<\/jats:italic>\n ,\n POLR1C<\/jats:italic>\n , or\n POLR1B<\/jats:italic>\n genes. Common clinical features include hypoplasia of the zygomatic complex and mandible, downward\u2010slanting palpebral fissures, lower eyelid anomalies, microtia, and hearing loss. Owing to its phenotypic overlap with other craniofacial syndromes, molecular testing is essential for establishing an accurate diagnosis and guiding effective clinical management.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Ten South African patients with a suspected clinical diagnosis of TCS underwent targeted next\u2010generation sequencing (NGS) using a custom gene panel including\n TCOF1<\/jats:italic>\n ,\n POLR1C<\/jats:italic>\n , and\n POLR1D<\/jats:italic>\n genes. Variants were classified according to ACMG\/AMP guidelines, with validation by Sanger sequencing where necessary.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Disease\u2010causing variants were identified in six of the ten patients (60%). These included five heterozygous variants in\n TCOF1<\/jats:italic>\n and one homozygous variant in\n POLR1D<\/jats:italic>\n . Notably, five of the six variants were identified for the first time in this study. Additionally, a recurrent\n TCOF1<\/jats:italic>\n deletion was identified for the first time in an African family.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This study expands the mutational spectrum of TCS in general and provides African data in particular. Findings support the use of panel\u2010based NGS for diagnosis in resource\u2010limited settings and highlight the need for population\u2010specific variant data to improve diagnostic accuracy, guide clinical care, and support genetic counselling for affected individuals and their families.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70295","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T04:31:56Z","timestamp":1788841916000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease\u2010Causing Variants in\n \n TCOF1<\/i>\n <\/scp>\n and\n \n POLR1D<\/i>\n <\/scp>"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2899-0507","authenticated-orcid":false,"given":"Patracia","family":"Nevondwe","sequence":"first","affiliation":[{"name":"Division of Human 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