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

Han, Song, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Bowden, Paul Edward 2006. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. British Journal of Dermatology 155 (1) , pp. 201-3. 10.1111/j.1365-2133.2006.07269.x

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Blackwell
ISSN:	0007-0963
Last Modified:	17 Oct 2022 08:32
URI:	https://orca.cardiff.ac.uk/id/eprint/395

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