Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Two different mutations in the same codon of a Type II hair keratin (hHb6) in patients with monilethrix

Pearce, Eve G, Smith, S Kaye, Lanigan, Sean W and Bowden, Paul Edward 1999. Two different mutations in the same codon of a Type II hair keratin (hHb6) in patients with monilethrix. Journal of Investigative Dermatology 113 (6) , pp. 1123-1127. 10.1046/j.1523-1747.1999.00777.x

Full text not available from this repository.

Abstract

Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoding region in two hair-specific keratins (hHb1 and hHb6) have been identified. We have now investigated two unrelated monilethrix patients and identified two different novel heterozygous point mutations of the same codon in exon 7 of the hHb6 gene. Dystrophic hair samples obtained from both patients showed the typical beaded appearance by scanning electron microscopy. Both mutations affected the first base of codon 402 (glutamic acid). In patient A, a G to C transition occurred causing a glutamine substitution (GAG to CAG: E402Q) whereas in patient B, the transition was G to A yielding a lysine substitution (GAG to AAG: E402K). The sequence of the 1A helical regions of hHb1 and hHb6 as well as the 2B helical region of hHb1, were normal. Unaffected relatives did not have the hHb6 mutation and this codon was found to be highly conserved showing no alteration in the normal population (100 alleles examined). Both mutations disrupted a Taq I restriction site and restriction fragment length polymorphism analysis showed that a diagnostic 361 bp fragment could confirm the mutation. Thus, two new point mutations of the hair-specific keratin gene hHb6 have been identified in this genetic disease.

Item Type: Article
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RL Dermatology
Uncontrolled Keywords: gene mutation, hair disease, human, intermediate filaments
Publisher: Nature Publishing Group
ISSN: 0022-202X
Last Modified: 12 Jun 2019 02:23
URI: https://orca.cardiff.ac.uk/id/eprint/56953

Citation Data

Cited 22 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item