{Reference Type}: Journal Article
{Title}: A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
{Author}: Xu Q;Zhang Q;Tang L;Jin L;Wang X;Kan L;Zheng X;Yang S;
{Journal}: J Cosmet Dermatol
{Volume}: 18
{Issue}: 6
{Year}: Dec 2019
{Factor}: 2.189
{DOI}: 10.1111/jocd.12905
{Abstract}: <B>BACKGROUND: </B>Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.<BR><B>OBJECTIVE: </B>To identify the gene mutation caused the PC in a Chinese family.<BR><B>METHODS: </B>Genomic DNA was extracted from peripheral blood samples of five patients and six healthy individuals. Genomic DNA of three patients was sequenced by whole-exome sequencing (WES). Then, exons 6 of KRT16 of all samples were amplified by polymerase chain reaction (PCR), and PCR products were sequenced to identify potential mutations.<BR><B>RESULTS: </B>We identified the proline substitution mutation p.Leu421Pro (c.1262T>C) in the 2B domain of K16 that is associated with PC in a Chinese family. The same mutation was not found in the six healthy individuals of the family.<BR><B>CONCLUSIONS: </B>The mutation found in this study is the first report in China. So far, 25 mutations in KRT16 have been reportedly associated with PC. Twenty-one mutations are located on exon 1, and four mutations on exon 6.