{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T08:42:37Z","timestamp":1768898557275,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T00:00:00Z","timestamp":1718150400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["VAST01.04\/23\u201024"],"award-info":[{"award-number":["VAST01.04\/23\u201024"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three\u2010generation family displaying index finger polydactyly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing was conducted on the patient, with a filtration to identify potential causal variation. Validation of the obtained variant was conducted by Sanger sequencing, encompassing all family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome analysis uncovered a novel heterozygous missense variant (c.1482A&gt;T; p.Gln494His) at the zinc finger DNA\u2010binding domain of the GLI3 protein within the proband and all affected family members. Remarkably, the variant was absent in unaffected individuals within the pedigree, underscoring its association with the polydactyly phenotype. Computational analyses revealed that GLI3 p.Gln494His impacts a residue that is highly conserved across species.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The GLI3 zinc finger DNA\u2010binding region is an essential part of the Sonic hedgehog signaling pathway, orchestrating crucial aspects of embryonic development through the regulation of target gene expression. This novel finding not only contributes valuable insights into the molecular pathways governing polydactyly during embryonic development but also has the potential to enhance diagnostic and screening capabilities for this condition in clinical settings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2468","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T10:34:01Z","timestamp":1718188441000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel missense variant located within the zinc finger domain of the <scp><i>GLI3<\/i><\/scp> gene was identified in a Vietnamese pedigree with index finger polydactyly"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3181-9209","authenticated-orcid":false,"given":"Thy Ngoc","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Life Sciences University of Science and Technology of Hanoi, Vietnam Academy of Science and Technology  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giang Son","family":"Tran","sequence":"additional","affiliation":[{"name":"Department of Information and Communication Technology University of Science and Technology of Hanoi, Vietnam Academy of Science and Technology  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai Duc","family":"Hoang","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Vietnam National Children's Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long Giang","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Management Information System Institute of Information Technology, Vietnam Academy of Science and Technology  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14224"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GOX.0000000000001549"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22609"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000032060"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38415"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.26506"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1673\u20108527(08)60071\u20105"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61368"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2100575118"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22189854"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12217"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12964\u2010020\u201000540\u2010x"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.03.017"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1895"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13143410"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35874"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00447"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.627"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/JID.2015.331"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010014\u20100110\u20109"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.03.012"}],"container-title":["Molecular Genetics &amp; 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