Genes encode proteins of the transcription factor IIH (TFIIH) complex, involved in the repair of DNA damage & basal transcription
Trichothiodystrophy
- AR, mutations in ERCC2 (XPD proteins) & ERCC3 (XPB protein)
- PIBIDS: photosensitivity (50%), ichthyosis (variable severity), brittle hair, intellectual impairment, decreased fertility, short stature
- Sulfur deficiency in hair
- Alternating bright and dark brands known as “tiger tail”, flattened hairs
- Receding chin, protruding ears
Cockayne Syndrome
- AR, CS-A (ERCC8) & CS-B (ERCC6)
- Photosensitivity, premature agining, developmental delay
- Photosensitivity: NO increased risk of skin cancer or pigmentary changes
- Cachetic dwarfism, peripheral neuropathy, sunken eyes, prominent ears
- “salt and pepper” retinitis pigmentosa, dental caries, thinning hair, basal ganglia calcification
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