A unique skin phenotype resulting from heterozygous deletion of six keratin genes

Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leukokeratosis, follicular cysts and natal teeth. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes. Here we aimed to identify the genetic basis of an atypical PC case. We conducted whole exome sequencing (WES) in affected individual and his healthy parents. This data set includes the WES analysis results.

先天性厚甲症（Pachyonychia congenita, PC）是一种罕见的常染色体显性遗传性疾病，以掌跖角化症、甲营养不良、口腔白色角化症、毛囊囊肿及诞生牙为典型临床表现。该病由KRT6A、KRT6B、KRT6C、KRT16及KRT17基因突变引发。本研究旨在明确1例非典型先天性厚甲症病例的遗传基础，对受累患者及其健康父母开展了全外显子组测序（whole exome sequencing, WES）分析，本数据集即包含该全外显子组测序的分析结果。