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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Mutat Res. 2012 Dec 28;752(2):138–152. doi: 10.1016/j.mrrev.2012.12.004

Table 2.

Clinical Syndromes with Genetic Defects in Helicase-like Proteins or Other DNA Repair Factors

DNA Repair Disorder Helicase Gene Mutation Other DNA Repair Gene Mutation
XP XPD XPC, DDB2, XPV (POLH), XPF, XPG, XPA, XPE
CS CSB CSA
TTD XPB, XPD GTF2H6, C7orf11
COFS XPD, CSB XPG
XP/CS XPB, XPD, CSB XPG
UV-sensitive syndrome CSB CSA
FA FANCJ (BACH1), FANCM FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL (PHF9), FANCN (PALB2), FANCO (RAD51C), FANCP (SLX4)

The relationships between DNA repair diseases and autosomal recessive mutations in genes encoding DNA helicase-like proteins or other DNA repair proteins. See references [20] and [25] for details.