GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families

Congenit Anom (Kyoto). 2016 Mar;56(2):94-7. doi: 10.1111/cga.12139.

Abstract

The GLI3 protein is a zinc finger transcription factor, expressed early in development. The GLI3 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 Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 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.

Keywords: Greig Cephalopolysyndactyly Syndrome; India; limb defects; mutation; polydactyly.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrocephalosyndactylia / diagnosis
  • Acrocephalosyndactylia / genetics
  • Adult
  • DNA Mutational Analysis
  • Female
  • Fingers / abnormalities
  • Humans
  • India
  • Kruppel-Like Transcription Factors / chemistry
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Mutation*
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Polydactyly / diagnosis*
  • Polydactyly / genetics*
  • Syndrome
  • Toes / abnormalities
  • Zinc Finger Protein Gli3

Substances

  • GLI3 protein, human
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Zinc Finger Protein Gli3

Supplementary concepts

  • Greig cephalopolysyndactyly syndrome
  • Polydactyly, Postaxial