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- Title
Mutation Report De novo mutations in monilethrix.
- Authors
Horev, Liran; Djabali, Karima; Green, Jack; Sinclair, Rodney; Martinez-Mir, Amalia; Ingber, Arieh; Christiano, Angela M.; Zlotogorski, Abraham
- Abstract
Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A. De novo mutations in monilethrix. Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in which the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb3 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
- Subjects
KERATIN; HAIR diseases; HAIR follicle diseases; GENETIC mutation; HAIR manifestations of general diseases; DERMATOLOGY
- Publication
Experimental Dermatology, 2003, Vol 12, Issue 6, p882
- ISSN
0906-6705
- Publication type
Article
- DOI
10.1111/j.0906-6705.2003.00022.x