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Case Reports
. 1992 Jul;1(4):301-5.
doi: 10.1038/ng0792-301.

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

J G Compton  1 , J J DiGiovanna, S K Santucci, K S Kearns, C I Amos, D L Abangan, B P Korge, O W McBride, P M Steinert, S J Bale
Affiliations
Case Reports

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

J G Compton et al. Nat Genet. 1992 Jul.

Abstract

We investigated the molecular genetics of epidermolytic hyperkeratosis (EHK), a dominant disorder characterized by epidermal blistering, hyperkeratosis, vacuolar degeneration and clumping of keratin filaments. Based on this pathology, we have excluded by linkage analysis several candidate genes for the disease; in contrast, complete linkage was obtained with the type II keratin, K1, on 12q11-q13. Linkage in this region of chromosome 12 was confirmed using several other markers, and multi-locus linkage analyses further supported this location. Keratins are excellent EHK gene candidates since their expression is specific to the suprabasal epidermal layers. In the pedigree studied here, a type II keratin gene, very probably K1, is implicated as the site of the molecular defect causing EHK.

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