A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
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Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
Nat Genet. 1993 Apr;3(4):327-32.
- PubMed ID
- 7526933 [ View in PubMed]
- Abstract
Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5). We describe a family with recessive EBS in which the disease is tightly linked to the substitution of the highly conserved glutamic acid-144 to alanine in the first helical segment of the rod domain of keratin 14. In contrast, linkage with keratin 5 was excluded. The loss of an ionic interaction with keratin 5 is likely to affect K14-K5 heterodimer formation. Our data suggest that this mutation underlies EBS in our family, and that mutations in keratin genes may impair the mechanical integrity of basal keratinocytes in a recessive as well as dominant fashion.