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Table 1 Clinical symptoms of NER-related disorders and more frequently involved genes

From: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

  Cockayne syndrome COFS syndrome Trichothiodystrophy Xeroderma pigmentosum UV-sensitive syndrome
Growth failure ++ ++ + - -
Microcephaly ++ ++ +/− +/− -
Intellectual disability ++ ++ +/− +/− -
Retinal degeneration + +/− - - -
Cataracts + + + - -
Deafness + +/− +/− - -
Photosensitivity + +/− +/− ++ ++
Brittle hair - - ++ - -
Cancer - - - ++ -
Known involved genes ERCC6(CSB) ERCC6(CSB) ERCC2(XPD) XPC ERCC6(CSB)
ERCC8(CSA) ERCC2(XPD) ERCC3(XPB) ERCC2(XPD) ERCC8(CSA)
  ERCC5(XPG) TTD-A XPA UVSSA(KIAA1530)
  ERCC1 TTDN1 POLH  
    ERCC5(XPG)  
    DDB2(XPE)  
    ERCC3(XPB)  
    ERCC1  
    ERCC4(XPF)  
  1. COFS: cerebro-oculo-facio-skeletal syndrome