N171S de novo mutation in keratin 6A gene in a Uighur patient with pachyonychia congenita type I in Xinjiang

Abstract

Objective To detect gene mutations of KRT6A gene in a sporadic ease of pachyonychia congenita type Ⅰ (PC-1). Methods Genomic DNA was extracted from the whole blood from a 3-year-old Uighur patient with PC-1 and his parents. Fifty unrelated normal individuals served as the control. All the exons of KRT6A gene were amplified using lung-range PCR followed by automatic DNA sequencing. Results Direct sequencing of the PCR products revealed a heterozygous missense mutation A512G in the exon 1 of KRT6A gene, leading to a change of asparagine to serine at codon 171 located at the start of 1A domain of KRT6A. No mutation was found in the exons of KRT6A gene in the unaffected parents or 50 unrelated normal controls. Conclusions A novel missense mutation in the KRT6A gene, N 171 S, has been found in a sporadic Uighur patient with PC-1, and it may be associated with the development of PC-1. Key words: Pachyonychia congenita; Genes, KRT6A ; Keratins; Mutation