GTF2H5 and Cowden syndrome 1: Patients with mutations in XPD (Xeroderma pigmentosum D) and GTF2H5 (general transcription factor IIH, polypeptide 5), genes involved in the NER pathway and in transcription-couple repair, have the DNA repair diseases: trichothiodystrophy (TTD), xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-ocular facial syndrome (COFS), or a combination [24, 61, 62].