261 A novel skin phenotype resulting from heterozygous deletion of six keratin genes

Abstract

The phenotypic spectrum of genodermatoses is continuously expanding. Three individuals were referred because of a highly unusual phenotype comprising sparse brittle hair, dystrophic nails, palmoplantar keratoderma and trauma-induced skin blistering. Whole exome sequencing analysis identified a heterozygous large genomic alteration of ∼116,0000 bp resulting in the deletion of the KRT9, KRT14, KRT15, KRT16, KRT19 genes as well as part of KRT17. This genomic change leads to the generation of a truncated KRT17 protein composed of the first 3 exons of the gene and part of intron 3.