Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterized by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. The authors identified a novel heterozygous mutation (c.4505C->T [p.Pro1502Leu]) in COL14A1 gene using exome sequencing, which is a missense substitution at a highly conserved amino acid residue across multiple species. Our results were helpful for advancing us on understanding of the pathogenesis of PPPK and call for further investigation of the potential contribution of COL14A1 mutation to the overall mutational load of PPPK. (By Xuejun Zhang M.D. Ph.D., http://jmg.bmj.com/content/49/9/563 )