Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population

Epidermolysis bullosa simplex, generalized severe (EBS-gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (KRT5) or keratin 14 (KRT14). However, it is rarely reported in the Chinese population. The current study was performed on three unrelated Chinese families with five patients clinically suspicious for distinct stages of EBS. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes. A diagnosis of EBS-gen sev for patients in these three families was confirmed by revealing missense mutations c.373C>T (p.Arg125Cys), c.374G>T (p.Arg125Leu), and a novel frameshift mutation c.1231delG (p.Glu411Argfs*31) in KRT14. Considering two previously reported cases and the results of the current report, amino acid residue 125 is likely the most frequent hotspot of EBS-gen sev in the Chinese population. The current study further indicated that the symptoms of EBS-gen sev patients decline with age.