DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Hum Mutat. 1997;9(6):519-25. doi: 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X.


Patient TTD183ME is male and has typical trichothiodystrophy characteristics, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of NER carried out by a TTD183ME fibroblast cell strain after ultraviolet (UV) exposure was approximately 65% of normal as determined by a method that converts repair patches into quantifiable DNA breaks. UV survival curves show a reduction in survival only at doses greater than 4 J/m2. Nucleotide sequence analysis of the ERCC2 (XPD) DNA repair and transcription gene cDNA revealed both a Leu461-to-Val substitution and a deletion of amino acids 716-730 in one allele and an Ala725-to-Pro substitution in the other allele. The first allele has also been reported in one xeroderma pigmentosum group D patient and two other trichothiodystrophy patients, while the second allele has not been previously reported. Comparisons suggest that the mutation of Ala725 to Pro correlates with TTD with intermediate UV sensitivity.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cells, Cultured
  • Child, Preschool
  • DNA Helicases*
  • DNA Primers / genetics
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Face / abnormalities
  • Growth Disorders / genetics
  • Growth Disorders / metabolism
  • Hair / abnormalities
  • Hair Diseases / genetics*
  • Hair Diseases / metabolism
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / metabolism
  • Intellectual Disability / genetics
  • Intellectual Disability / metabolism
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Proteins / genetics*
  • Transcription Factors*
  • Ultraviolet Rays / adverse effects
  • Xeroderma Pigmentosum / genetics
  • Xeroderma Pigmentosum / metabolism
  • Xeroderma Pigmentosum Group D Protein


  • DNA Primers
  • DNA-Binding Proteins
  • Proteins
  • Transcription Factors
  • DNA Helicases
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human

Associated data

  • GENBANK/U04967
  • GENBANK/U04968
  • SWISSPROT/P06839
  • SWISSPROT/P18074
  • SWISSPROT/P26659