Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with ‘non-syndromic’ pre-axial polydactyly

Polydactyly is a clinically and genetically heterogeneous disorder. in the current report, we present a five-generation chinese family with non-syndromic pre-axial polydactyly with thumb polydactyly (pre-axial polydactyly type i (ppd-i)) as a major clinical feature. using whole-exome sequencing (wes), a novel nonsense mutation c.714t>a (p.y238*) of the glioma-associated oncogene family zinc-finger 3 gene (gli3) was identified as the pathogenic mutation for this family. our study has, for the first time, suggested the possible contribution of gli3 in the patheogenesis of ppd-i, and demonstrated that wes provided an applicable diagnostic tool for identifying mutations in disorders with highly genetical heterogeneity such as polydactyly.