A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family

Pediatr Dermatol. 2013 Jan-Feb;30(1):139-41. doi: 10.1111/j.1525-1470.2011.01587.x. Epub 2012 Feb 3.

Abstract

Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails, or both. In the present study, we have described a consanguineous Pakistani family having a family member affected with congenital anonychia. Genotyping using polymorphic microsatellite markers showed linkage of the family to gene RSPO4 encoding R-spondin and mapped on human chromosome 20p13. Deoxyribonucleic acid sequence analysis of the gene identified a novel nonsense mutation (c.18C>A; p.Cys6X) in the affected family member.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense*
  • Female
  • Gene Expression Regulation
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Nails, Malformed / congenital*
  • Nails, Malformed / diagnosis
  • Nails, Malformed / genetics
  • Pakistan
  • Pedigree
  • Signal Transduction
  • Thrombospondins / genetics*

Substances

  • Codon, Nonsense
  • RSPO4 protein, human
  • Thrombospondins

Supplementary concepts

  • Anonychia congenita