Article
A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
The British journal of dermatology - 1 Jun 2012
De Cruz R, Horev L, Green J, Babay S, Sladden M, Zlotogorski A, Sinclair R
Abstract excerpt
BACKGROUND: Monilethrix is a genetic hair shaft disorder that causes a dystrophic alopecia. Mutations causing autosomal dominant monilethrix have been found in the helix initiation and helix termination motifs of the type II hair keratins KRT81, KRT83 and KRT86. Mutations in DSG4 are linked to recessive transmission. OBJECTIVES: We investigated a large Tasmanian family demonstrating autosomal dominant monilethrix...
Topics
- Alopecia
- Amino Acid Substitution
- Female
- Hair
- Heterozygote
- Humans
- Keratins, Hair-Specific
- Keratins, Type II
- Male
- Monilethrix
- Mutation
- Pedigree
- Penetrance
- Tensile Strength