A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex

Authors: Bowden, Paul E.¹; Knight, Arthur G.²; Liovic, Mirjana

Source: Experimental Dermatology, Volume 18, Number 7, July 2009 , pp. 650-652(3)

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Abstract:

Please cite this paper as: A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex. Experimental Dermatology 2009; 18: 650-652. Abstract:

A novel missense mutation (p.Thr198Ser) in the 1A helix of keratin 5 (K5) has been identified in a four-generation family with a history of the localized variant of epidermolysis bullosa simplex (EBS-loc), a genetic skin fragility disorder caused by K5 or K14 mutations. Genomic DNA was isolated from blood samples of patients and their healthy relatives, and all exons of the genes encoding K5 and K14 (KRT5 and KRT14) were amplified by PCR and directly sequenced. The identified mutation was confirmed by mismatch allele-specific (MM-AS)-PCR and restriction enzyme digestion with RsaI. K5 p.Thr198Ser lies at the C-terminal end of the 1A helical domain and is considered to be outside of the main mutation hotspot region. This is the first reported mutation to affect position 30 of the 1A helix (1A:T30S) in any of the 54 known keratins.

Keywords: EBS; intermediate filaments; keratin; mutation; O-glycosylation; phosphorylation

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1600-0625.2008.00820.x

Affiliations: 1: Department of Dermatology, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK 2: Welsh Institute of Dermatology, University Hospital of Wales, Cardiff, CF14 4XW, UK

Publication date: 2009-07-01