A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

BMC Med Genet. 2019 Nov 9;20(1):174. doi: 10.1186/s12881-019-0889-5.

Abstract

Background: Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

Case presentation: The patient was a 2-year-old boy who underwent surgery in our hospital. The right hand and left foot of the patient were labelled as postaxial polydactyly type B, and there was cutaneous webbing between the 3rd and 4th fingers of the left hand. We identified a novel c. 1622C > T variant in GLI3 leading to an isolated postaxial synpolydactyly.

Conclusions: The patient carries a novel autosomal dominant heterozygous missense mutation. This mutation c.1622C > T;p.(Thr541Met) in the GLI3 gene may affect the normal function of the zinc finger domain (ZFD) in a different way. However, it seems that more research is needed to determine the exact effects of this mutation.

Keywords: GLI3 gene; Gene mutation; Synpolydactyly.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • Fingers / abnormalities*
  • Humans
  • Male
  • Mutation, Missense*
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Polydactyly / genetics*
  • Sequence Homology, Amino Acid
  • Toes / abnormalities*
  • Zinc Finger Protein Gli3 / chemistry
  • Zinc Finger Protein Gli3 / genetics*
  • Zinc Fingers*

Substances

  • GLI3 protein, human
  • Nerve Tissue Proteins
  • Zinc Finger Protein Gli3

Supplementary concepts

  • Polydactyly, Postaxial