Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a rare skin disease characterized by the sub-nuclear rupture of epidermal basal cells; Weber–Cockayne is the most common variant (EBS-WC; OMIM 131800). Most mutations underlying EBS are found in the KRT5 and KRT14 genes [the Human Intermediate Filament Mutation Database, http://www.interfil.org (accessed 21 January 2006); Human Gene Mutation Database, http://www.hgmd.org (accessed 21 January 2006)]. We report a heterozygous donor splice site mutation (IVS4:927+1 G?A) in the KRT14 gene which abolishes normal splicing in vivo and, very unusually, leads to the utilization of a cryptic noncanonical GA donor splice site within exon 4