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Its etiology is complex and it has a lifelong influence on affected individuals. Despite many studies, the pathogenic gene alleles are not completely clear. Here, we recruited a Chinese NSCL\/P family and explored the candidate causative variants in this pedigree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole\u2010exome sequencing on two patients and two unaffected subjects of this family. Variants were screened based on bioinformatics analysis to identify the potential etiological alleles. Species conservation analysis, mutation function prediction, and homology protein modeling were also performed to preliminarily evaluate the influence of the mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified three rare mutations that are located on a single chromatid (c.2684C\u00a0&gt;\u00a0T_p.Ala895Val, c.4350G\u00a0&gt;\u00a0T_p.Gln1450His, and c.4622C\u00a0&gt;\u00a0A_p.Ser1541Tyr) in <jats:italic>GLI2<\/jats:italic> as candidate causative variants. All of these three mutations were predicted to be deleterious, and they affect amino acids that are conserved in many species. The mutation c.2684C\u00a0&gt;\u00a0T was predicted to affect the structure of the GLI2 protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results further demonstrate that <jats:italic>GLI2<\/jats:italic> variants play a role in the pathogenesis of NSCL\/P, and the three rare missense mutations combined are probably the potential disease\u2010causing variants in this family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.714","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T15:04:57Z","timestamp":1565103897000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Three <i>GLI2<\/i> mutations combined potentially underlie non\u2010syndromic cleft lip with or without cleft palate in a Chinese 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