A novel nonsense mutation of GLI3 induced non-syndromic polydactyly

In the present study, whole exome sequencing (WES) was performed on a four-generation Chinese pedigree with bilateral non-syndromic polydactyly for identifying disease-causing mutation(s). A pathogenic mutation c.739 C>T (p.Q247*) in the glioma-associated oncogene family zinc finger 3 (GLI3) gene was identified, which co-segregated with polydactyly in the four-generation pedigree.