Healy, Eugene, Holmes, Susan C., Belgaid, Christine E., Stephenson, Anthea M., McLean, W.H. Irwin, Rees, Jonathan L. and Munro, Colin S.
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Human Molecular Genetics, 4, (12), . (doi:10.1093/hmg/4.12.2399). (PMID:8634717).
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Monilethrix is an uncommon hereditary disorder of hair and nail which produces hair fragility and a variable alopecia. Many of the dystrophic hairs have a unique beaded morphology. Ultrastructural changes suggest a defect in the microfilament structure of the cortex of the hair shaft,and hence the cysteine-rich trichocyte keratins are candidate genes. Here, in two families with autosomal dominant monilethrix, we have excluded linkage to the type I keratin gene cluster on chromosome 17q, but show that the disorder is closely linked to the type II keratin cluster on 12q, where genes for basic trichocyte keratins are found. The combined maximum lod score for D12S96 was 12.27 at theta=0.0. This is the first mapping of a primary human hair disorder and the first evidence implicating a defect of the word 'hard' keratins of hair and nail disease.
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