A unique skin phenotype resulting from heterozygous deletion of six keratin genes

Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leukokeratosis, follicular cysts and natal teeth. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes. Here we aimed to identify the genetic basis of an atypical PC case. We conducted whole exome sequencing (WES) in affected individual and his healthy parents. This data set includes the WES analysis results.