Abstract: Objective To analyze the mutation of GLI3 gene in a family with congenital polydactyly, and further enrich the mutant spectrum of GLI3. Methods The clinical data of one patient with polydactyly were summarized. The DNA samples of peripheral blood from the patient and his family members were extracted. Using the whole exon sequencing method to detect the disease-causing genes. Sanger sequencing was applied to verify the genes. Results In this family, the frame-shift mutation of c. 2783delG (p. arg928profs24x) in GLI3 gene located at 7p14.1 was detected in 4 patients with polydactyly. The mutation was not detected in normal members of the family. There were no related reports in HGMD,Clinvar and dbSNP. The case of polydactyly carried c. 2783delG (p. arrg928profs24x) frame-shift mutation was clearly diagnosed, and the mutation locus was a new mutation of GLI3 gene. Conclusion The discovery of the new mutation further enriches the mutant spectrum of GLI3 gene, which provides a new direction for the study of polydactyly.

Key words: polydactyly, GLI3 gene, genetic mutation, whole exome sequencing, Sanger sequencing