Published Date: March 13, 2019

Full Text Article

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures

Authors: Qiaohu Xu, Qun Zhang, Lili Tang, Ling Jin, Xiaomeng Wang, Lixin Kan, Xiaodong Zheng, Sen Yang

J Cosmet Dermatol. 2019 Dec;18(6):1930-1934. doi: 10.1111/jocd.12905. Epub 2019 Mar 12.


BACKGROUND: 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.

AIMS: To identify the gene mutation caused the PC in a Chinese family.

PATIENTS/METHODS: 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.

RESULTS: 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.

CONCLUSIONS: 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.

PMID: 30859684DOI: 10.1111/jocd.12905