Hum Mutat. 1993;2(1):37-42.

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P.

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Department of Genetics, Trinity College, Dublin, Ireland.

Abstract

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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Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. [Hum Mutat. 1996]
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P. Hum Mutat. 1996; 8(1):57-63.
Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form. [Genomics. 1990]
Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.
Humphries MM, Sheils D, Lawler M, Farrar GJ, McWilliam P, Kenna P, Bradley DG, Sharp EM, Gaffney EF, Young M. Genomics. 1990 Jul; 7(3):377-81.
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. [Proc Natl Acad Sci U S A. 1993]
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
Chan YM, Yu QC, Fine JD, Fuchs E. Proc Natl Acad Sci U S A. 1993 Aug 1; 90(15):7414-8.
Review Epidermolysis bullosa simplex. [Semin Dermatol. 1993]
Review Epidermolysis bullosa simplex.
Coulombe PA, Fuchs E. Semin Dermatol. 1993 Sep; 12(3):173-90.
Review Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. [Hum Mutat. 2003]
Review Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H. Hum Mutat. 2003 Apr; 21(4):447.

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Cited by 5 PubMed Central articles

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. [J Med Genet. 2006]
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.
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. [Am J Hum Genet. 1997]
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.
Review Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton. [Mol Biol Cell. 1997]
Review Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.
Fuchs E. Mol Biol Cell. 1997 Feb; 8(2):189-203.

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A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Hum Mutat. 1993 ;2(1):37-42.

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A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

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