{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:51Z","timestamp":1790278851392,"version":"4.1.0"},"reference-count":69,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T00:00:00Z","timestamp":1665964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K07025"],"award-info":[{"award-number":["22K07025"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["2020"],"award-info":[{"award-number":["2020"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes\n                    <jats:italic>TCOF1<\/jats:italic>\n                    ,\n                    <jats:italic>POLR1D<\/jats:italic>\n                    ,\n                    <jats:italic>POLR1C<\/jats:italic>\n                    , and\n                    <jats:italic>POLR1B<\/jats:italic>\n                    . Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype\u2013phenotype correlations with statistical analysis. Studies reporting both complete molecular genetics and clinical data were included. We identified that the molecular anomaly within\n                    <jats:italic>TCOF1<\/jats:italic>\n                    (88.71%) accounted for most TCS cases. The only true hot spot for\n                    <jats:italic>TCOF1<\/jats:italic>\n                    was detected in exon 24, with recurrent c.4369_4373delAAGAA variant is identified. While the hot spot for\n                    <jats:italic>POLR1D<\/jats:italic>\n                    ,\n                    <jats:italic>POLR1C<\/jats:italic>\n                    , and\n                    <jats:italic>POLR1B<\/jats:italic>\n                    were identified in exons 3, 8, and 15, respectively. Our result suggested that the higher severity level was likely to be observed in Asian patients harboring\n                    <jats:italic>TCOF1<\/jats:italic>\n                    variants rather than\n                    <jats:italic>POLR1<\/jats:italic>\n                    . Moreover, common 5\u2010bp deletions tended to have a higher severity degree in comparison to any variants within exon 24 of\n                    <jats:italic>TCOF1<\/jats:italic>\n                    . In summary, this report suggested the relationship between genetic and clinical data in TCS. Our findings could be used as a reference for clinical diagnosis and further biological studies.\n                  <\/jats:p>","DOI":"10.1111\/cge.14243","type":"journal-article","created":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T00:58:15Z","timestamp":1665104295000},"page":"146-155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-1940","authenticated-orcid":false,"given":"Zulvikar Syambani","family":"Ulhaq","sequence":"first","affiliation":[{"name":"Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture Kyushu University Fukuoka Japan"},{"name":"Research Center for Pre\u2010clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia Cibinong Indonesia"},{"name":"Department of Biomedical Science, Faculty of Medicine and Health Sciences Maulana Malik Ibrahim State Islamic University Batu Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6262-3586","authenticated-orcid":false,"given":"Dian Kesumapramudya","family":"Nurputra","sequence":"additional","affiliation":[{"name":"Department of Child Health, Faculty of Medicine Gadjah Mada University Yogyakarta Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2656-4176","authenticated-orcid":false,"given":"Gita Vita","family":"Soraya","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine Hasanuddin University Makassar Indonesia"},{"name":"Department of Neurology, Faculty of Medicine Hasanuddin University Makassar Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siti","family":"Kurniawati","sequence":"additional","affiliation":[{"name":"Department of Clinical Microbiology, Faculty of Medicine Brawijaya University Malang Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7459-3935","authenticated-orcid":false,"given":"Lola Ayu","family":"Istifiani","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Faculty of Medicine Brawijaya University Malang Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8652-3536","authenticated-orcid":false,"given":"Syafrizal Aji","family":"Pamungkas","sequence":"additional","affiliation":[{"name":"Al\u2010Falah Social Fund Foundation Clinic (YDSF) Malang Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3738-0460","authenticated-orcid":false,"given":"William 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