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

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.

• Authors: M M Humphries, D M Sheils, G J Farrar, R Kumar-Singh, P F Kenna, F C Mansergh, S A Jordan, M Young, P Humphries
• Journal: Human mutation (Hum Mutat) Vol. 2 Issue 1 Pg. 37-42 ( 1993) ISSN: 1059-7794 [Print] United States
• PMID: 7682883 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Keratins
• DNA
• Arginine
• Methionine

Topics

• Amino Acid Sequence
• Arginine (genetics)
• Base Sequence
• Chromosomes, Human, Pair 1
• DNA
• DNA Mutational Analysis
• Epidermolysis Bullosa Simplex (genetics)
• Female
• Genes, Dominant
• Genetic Linkage
• Humans
• Keratins (genetics)
• Male
• Methionine (genetics)
• Molecular Sequence Data
• Pedigree
• Point Mutation