{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:31:51Z","timestamp":1760401911104,"version":"build-2065373602"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T00:00:00Z","timestamp":1563926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2016HP37"],"award-info":[{"award-number":["ZR2016HP37"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["anatomypubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven family members and 100 healthy controls were recruited, and the genetically pathogenic factor of the polydactyly family was investigated by targeted exome sequencing. Targeted exome sequencing revealed a novel frameshift mutation c.2148delA (p.Gln716Hisfs*17) of <jats:italic>GLI3<\/jats:italic> in the family. This <jats:italic>GLI3<\/jats:italic> variant was absent in 100 healthy controls and predicted to be highly damaging to the function of the GLI3 by causing half truncation of the protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This novel variant extended the mutational and phenotypic spectra of <jats:italic>GLI3<\/jats:italic> and demonstrated the feasibility of targeted exome sequencing in clinical application of molecular diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/dvdy.89","type":"journal-article","created":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T12:47:35Z","timestamp":1563194855000},"page":"942-947","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Targeted exome sequencing reveals a novel <i>GLI3<\/i> mutation in a Chinese family with nonsyndromic polydactyly"],"prefix":"10.1002","volume":"248","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8621-9377","authenticated-orcid":false,"given":"Xiangyu","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Linyi People's Hospital  Linyi Shandong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Linyi People's Hospital  Linyi Shandong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaxia","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Linyi People's Hospital  Linyi Shandong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Linyi People's Hospital  Linyi Shandong Province 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