Abstract:

Objective To identify gene mutations in two families with epidermolytic hyperkeratosis （EHK）. Methods Clinical data were collected from two families with EHK. Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls. PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing. Results Two mutations in the KRT10 gene, including a heterozygous acceptor splice site mutation in intron 4 （c.1030-2 A>G） and a heterozygous missense mutation c.467 G>A, were identified in the probands of both families, but absent in the unaffected family members or healthy controls. Conclusion The splice site mutation c.1030-2 A>G and missense mutation c.467 G>A might be responsible for the phenotype of EHK in the two families.

Key words: KRT10