Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/734
Title: A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
Epworth Authors: Sinclair, Rodney
Other Authors: De Cruz, R.
Horev, Liran
Green, Jack
Babay, S.
Sladden, M.
Zlotogorski, Abraham
Keywords: Alopecia
Genetics
Amino Acid Substitution
Female
Hair
Physiology
Heterozygote
Keratins
Hair-Specific
Type II
Male
Monilethrix
Mutation
Pedigree
Penetrance
Tensile Strength
Head and Neck Clinical Institute, Epworth HealthCare
Issue Date: Jun-2012
Publisher: Wiley
Citation: Br J Dermatol. 2012 Jun;166 Suppl 2:20-6.
Abstract: 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 with incomplete penetrance in order to identify the responsible genetic mutation. As only some affected hairs were moniliform, analysis was undertaken to demonstrate a deficit in the tensile strength of nonmoniliform hairs. METHODS: One hundred and twenty family members were examined. Light microscopy of hair samples was used to support clinical diagnoses. Linkage and gene sequencing studies were then undertaken. Nonbeaded fibres were analysed using the Single Fibre Analyser 3 (SIFAN 3). RESULTS: We identified a novel A280V (c.839C > T substitution) mutation in the coil 2A region of KRT86. This is the first mutation located in a region other than the helix initiation or termination motifs. The A280V mutation was identified in both affected and clinically unaffected family members. Nonmoniliform hairs demonstrated reduced elasticity among both affected and unaffected individuals carrying the A280V mutation. CONCLUSIONS: This is the first mutation located in a region other than the helix initiation or termination motifs, thus expanding the spectrum of mutations and highlighting the importance of molecular diagnosis in monilethrix.
URI: http://hdl.handle.net/11434/734
DOI: 10.1111/j.1365-2133.2012.10861.x
PubMed URL: http://www.ncbi.nlm.nih.gov/pubmed/22670615
ISSN: 0007-0963
1365-2133
Journal Title: British Journal of Dermatology
Type: Journal Article
Affiliated Organisations: Department of Dermatology, St Vincent's Hospital Melbourne, Fitzroy, Vic, Australia.
Type of Clinical Study or Trial: Cohort Study
Appears in Collections:Head & Neck
Dermatology

Files in This Item:
There are no files associated with this item.


Items in EKB are protected by copyright, with all rights reserved, unless otherwise indicated.