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A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients

Korge, Bernhard P., Healy, Eugene, Munro, Colin S., Pünter, Claudia, Birch-Machin, Mark, Holmes, Susan C., Darlington, Silke, Hamm, Henning, Messenger, Andrew G., Rees, Jonathan L. and Traupe, Heiko (1998) A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients Journal of Investigative Dermatology, 111, (5), pp. 896-899. (doi:10.1046/j.1523-1747.1998.00362.x). (PMID:9804356).

Record type: Article


Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus candidate genes. In several families with autosomal dominant monilethrix, the disorder has been linked to the type II keratin gene cluster at chromosome 12q13. Recently, causative mutations in the critical helix termination motif in the 2B domain of the human hair basic keratin 6 (hHb6) have been identified. We now report the results of sequencing this domain in 13 unrelated families or cases with monilethrix. Five of the 13 had the same mutation as previously found, a G to A transversion leading to a lysine for glutamic acid substitution (E413K) in the 2B domain (residue 117 of the 2B helix) of hHb6. The mutation was confirmed by a restriction fragment length polymorphism assay developed for this purpose, and, as this mutation is evidently a common cause of the syndrome, for use in screening other cases. In eight families or cases, however, including three in whom linkage data are consistent with a defect at the type II keratin locus, no mutation was found in this domain of hHb6.

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Published date: November 1998
Keywords: hair diseases, hard keratins, intermediate filaments, monilethrix
Organisations: Clinical & Experimental Sciences


Local EPrints ID: 334270
ISSN: 0022-202X
PURE UUID: 9c284f6d-ed77-4a90-9fe2-d390ebdfeb47

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Date deposited: 16 Mar 2012 10:10
Last modified: 18 Jul 2017 06:12

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Author: Bernhard P. Korge
Author: Eugene Healy
Author: Colin S. Munro
Author: Claudia Pünter
Author: Mark Birch-Machin
Author: Susan C. Holmes
Author: Silke Darlington
Author: Henning Hamm
Author: Andrew G. Messenger
Author: Jonathan L. Rees
Author: Heiko Traupe

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