[A novel mutation of GLI3 gene underlying synpolydactyly in a family].

OBJECTIVE

To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.

METHODS

Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.

RESULTS

A heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.

CONCLUSION

The c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.