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A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

Citation

De Cruz, R and Horev, L and Green, J and Babay, S and Sladden, M and Zlotogorski, A and Sinclair, R, A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance, British Journal of Dermatology, 166, (SUPPL. 2) pp. 20-26. ISSN 0007-0963 (2012) [Refereed Article]

Copyright Statement

Copyright 2012 British Association of Dermatologists

DOI: doi:10.1111/j.1365-2133.2012.10861.x

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 high-lighting the importance of molecular diagnosis in monilethrix. © 2012 The Authors BJD © 2012 British Association of Dermatologists.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Dermatology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Skin and Related Disorders
Author:Sladden, M (Dr Mike Sladden)
ID Code:83051
Year Published:2012
Web of Science® Times Cited:7
Deposited By:Medicine (Discipline)
Deposited On:2013-02-28
Last Modified:2013-05-07
Downloads:0

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