{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T17:13:00Z","timestamp":1769188380014,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T00:00:00Z","timestamp":1652313600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2021YFC2701002"],"award-info":[{"award-number":["2021YFC2701002"]}],"id":[{"id":"10.13039\/501100001809","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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non\u2010syndromic postaxial polydactyly (PAP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After recruiting a three\u2010generation family with PAP, whole\u2010exome sequencing was performed to identify the causative variant. In silico analysis and Sanger sequencing were used to validate the variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel heterozygous frameshift variant (NM_000168.6:c.4540delG, p.Asp1514Thrfs*5) in the transcriptional activator (TA1) domain of the <jats:italic>GLI3<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The novel frameshift variant identified in this study further confirms the relationship between non\u2010syndromic PAP and <jats:italic>GLI3<\/jats:italic> and extends the previously established mutational and phenotypic spectra of <jats:italic>GLI3<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1968","type":"journal-article","created":{"date-parts":[[2022,5,12]],"date-time":"2022-05-12T08:44:45Z","timestamp":1652345085000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel variant of <i>GLI3<\/i>, p.<scp>Asp1514Thrfs<\/scp>*5, is identified in a Chinese family affected by polydactyly"],"prefix":"10.1002","volume":"10","author":[{"given":"Yusi","family":"Wang","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics Harbin Medical University  Harbin China"},{"name":"Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University) Ministry of Education  Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuguang","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Hand Surgery the Fifth Hospital of Harbin  Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Harbin Medical University  Harbin China"},{"name":"Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University) 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