GLI 3 mutations in syndromic and non‐syndromic polydactyly in two I ndian families

The GLI 3 protein is a zinc finger transcription factor, expressed early in development. The GLI 3 gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non‐syndromic polydactyly. The present study reports two cases: first, a familial case of G reig C ephalopolysyndactyly Syndrome ( GCPS ); the second is a sporadic case with both postaxial polydactyly ( PAP ) type A and B. Resequencing of GLI 3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly ( PAP ). Both nonsense truncation mutations; p.R792X ( GCPS ) and p.E1478X ( PAP ) introduce a premature stop codon leading to loss of C ‐terminal domains.