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A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Department of Genetics, Trinity College, Dublin, Ireland.
We have identified a single base change in exon 4 of the type I keratin gene which results in the replacement of a methionine for an arginine residue at codon 272 in an Irish family displaying an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously provided tentative evidence for linkage to genetic markers on chromosome 1q. The mutation cosegregates with the disease, producing a lod score of 4.8 at theta = 0.
PMID: 7682883 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
Naeem M, Wajid M, Lee K, Leal SM, Ahmad W.
J Med Genet. 2006 Mar; 43(3):274-9.
[J Med Genet. 2006]
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Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, et al.
Am J Hum Genet. 1997 Dec; 61(6):1268-75.
[Am J Hum Genet. 1997]
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ReviewKeith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.
Fuchs E.
Mol Biol Cell. 1997 Feb; 8(2):189-203.
[Mol Biol Cell. 1997]
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