Somatic mosaicism containing double mutations in <i>PTCH1</i> revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome

Abstract

This is the first case of mosaicism unequivocally demonstrated in NBCCS. Furthermore, the mosaicism is unique in that the patient carries one normal and two mutant alleles. Because these mutations are located in close proximity, reversion error is likely to be involved in this event rather than a spontaneous mutation. In addition, this study indicates that gene analysis of iPSC clones can contribute to the detection of mosaicism containing a minor population carrying a second mutation.