Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family

Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25.

Abstract

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.

Publication types

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

MeSH terms

  • Adult
  • Consanguinity
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / metabolism
  • Pedigree
  • Phenotype
  • Tunisia
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / metabolism
  • Xeroderma Pigmentosum Group A Protein / genetics*
  • Xeroderma Pigmentosum Group A Protein / metabolism
  • Young Adult

Substances

  • Xeroderma Pigmentosum Group A Protein