Identification Of A Novel Mutation In The K6a And K16 Genes Of Pachyonychia Congenita Type Ⅰ In Xinjiang

Objective: To identify gene mutation in Pachyonychia Congenita Type I (PC-1) patients and explore the relationship between the genotypes and the phenotypes.Methods: Genomic DNA was extracted from whole blood by standard methods from patients with PC-1 and their family members and from 50 normal controls,unrelated individuals. All exon sequences of KRT6A gene and KRT16 gene were amplified using long-range polymerase chain reaction (PCR) and subjected to automatic DNA sequencing.Results: Direct sequencing of the PCR products revealed a de novo missense mutation, N171S in the KRT6A gene, which resulted from translation at nucleotide 512 in exon 1 in the sporadic patient. This mutation was in the substitution by serine at codon 171 (N171S) located at the start of 1A domain of KRT6A. No such mutation was found in the patient,s parents and this mutation excluded from both the other patients and 50 normal controls.Conclusions: A missense mutation in the KRT6A gene, N171S ,has been found in a sporadic PC-1 patient. The identification of this recurrent mutation in the KRT6A gene provides further evidence that mutation in the KRT6A gene causes PC-1 phenotype.