A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

Arch Dermatol Res. 2010 Jan;302(1):67-70. doi: 10.1007/s00403-009-1003-1. Epub 2009 Nov 13.

Abstract

Multiple familial trichoepithelioma (MFT, OMIM 601606) is an autosomal dominantly inherited disease. It is characterized by numerous skin-colored papules on the central face. Pathogenic mutations in the CYLD gene have been identified. In this report, we identified a novel mutation of CYLD gene in a Chinese family with MFT. It is a novel heterozygous nucleotide G-->A transition at position 2,317 in exon 17 of the CYLD gene. Our study expands the database on the CYLD gene mutations in MFT.

Publication types

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

MeSH terms

  • Adult
  • Carcinoma / diagnosis
  • Carcinoma / genetics*
  • Carcinoma / metabolism
  • Carcinoma / pathology
  • China
  • Chromosome Disorders
  • Chromosomes, Human, Pair 16*
  • DNA Mutational Analysis
  • Deubiquitinating Enzyme CYLD
  • Family
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / metabolism*

Substances

  • Tumor Suppressor Proteins
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD