Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity


Birch-Machin, M. A., Healy, Eugene, Turner, R., Haldane, F., Belgaid, C. E., Darlington, S., Stephenson, A. M., Munro, C., Messenger, A. G. and Rees, J. L. (1997) Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. British Journal of Dermatology, 137, (3), 339-343. (doi:10.1046/j.1365-2133.1997.18461954.x). (PMID:9349326).

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Description/Abstract

Monilethrix is an autosomal dominant disorder chiefly affecting hair. The degree of hair dystrophy is
highly variable, as is the presence of additional features, such as follicular keratoscs. In three British
families of monilethrix. linkage has recently been reported to the type II keratin gene cluster at
chromosome 12ql 3. and it has been suggested that the disease is due to a defect in the hard keratins
of hair and nail. If monilethrix is a keratin disorder, we would predict that some pedigrees might map
to the type I keratin gene cluster on 17q where hard keratin genes are also found. We have now
studied clinically and by linkage analysis three new and unrelated pedigrees from England. Scotland
and Spain, the lirst of which showed a variant phcnotype. In this family the disease was expressed in
four of 12 cases only as a follicular keralosis of the neck, elbows and knees, and without clinical or
historical evidence of hair anomalies: non-penetrance in an obligate carrier was also observed. In all
three families, we have established linkage to a series of microsatellite markers at the type II locus at
12ql3 (2^,,^ =6-34 at e = {)-0() for D12S368) and have excluded linkage from the type I keratin
gene cluster on 17q. It remains probable that monilethrix is a disorder of hard keratins, but at present
there is no evidence that it is due to defects in type I keratins.

Item Type: Article
ISSNs: 0007-0963 (print)
1365-2133 (electronic)
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine > Infection, Inflammation and Immunity
ePrint ID: 334242
Date Deposited: 15 Mar 2012 16:43
Last Modified: 27 Mar 2014 20:19
URI: http://eprints.soton.ac.uk/id/eprint/334242

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