Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I

Clin Genet. 2005 May;67(5):429-33. doi: 10.1111/j.1399-0004.2005.00431.x.

Abstract

Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. However, the different phenotypes resulting from GLI3 mutations have not yet been properly defined. We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD-IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD-I). The genes responsible for syndactyly of the third and fourth fingers (syndactyly type-I) and PPD-I have not yet been identified; we therefore examined the involvement of the GLI3 gene in these subtypes of digital abnormality. We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. Thus, the phenotype of foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers may result from a GLI3 mutation, whereas the PPD-I phenotype alone is not caused by GLI3 gene defect. These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed.

Publication types

  • Case Reports

MeSH terms

  • Codon, Nonsense
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Foot Deformities / genetics
  • Hand Deformities / genetics
  • Humans
  • Infant
  • Kruppel-Like Transcription Factors
  • Male
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Polydactyly / genetics*
  • Polydactyly / pathology
  • Transcription Factors / genetics*
  • Zinc Finger Protein Gli3

Substances

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