Detection and characterization of low-level mosaicism among clinically unaffected parents of 'sporadic' epidermolysis bullosa simplex cases

In this study, two (18.2%) clinically unaffected parents from 11 trios were identified with mosaic KRT14 variants.To our knowledge, this is the first report to study the proportion of low-level mosaicism in the clinically unaffected parents whose children were previously regarded as sporadic EBS cases.

Automated summary

This study reports for the first time the proportion of low-level mosaicism in clinically unaffected parents, whose children were previously regarded as sporadic EBS cases.