A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
Nat Genet
; 3(4): 327-32, 1993 Apr.
Article
in En
| MEDLINE
| ID: mdl-7526933
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epidermolysis Bullosa
/
Genes, Recessive
/
Keratins
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
1993
Type:
Article
Affiliation country:
France