Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13

JOURNAL OF INVESTIGATIVE DERMATOLOGY

卷:106

Article

Stevens, HP ; Kelsell, DP ; Bryant, SP ; Bishop, DT ; Dawber, RPR ; Spurr, NK ; Leigh, IM

关键词: hair disease;    hard keratins;    follicular hyperkeratosis;    epidermolysis;   

DOI  :  10.1111/1523-1747.ep12346400

来源: Elsevier

【 摘 要 】

Monilethrix is characterized by beaded or moniliform hair, which results from the periodic thinning of the hair shaft. The beaded hair thus produced is subject to excess weathering and premature fracturing at the internodes. Clinically, monilethrix presents with short, fragile, broken hair. The follicular abnormalities range from subtle perifollicular erythema and hyperkeratosis to horny follicular papule formation. At the ultrastructural level, cytolysis and keratin tonofilament clumping (epidermolysis) are seen in the cortical cells of the bulb of the hair follicle. Microsatellite markers flanking the keratin gene clusters at 17q12-q21 and 12q11-q13 were used to perform linkage analysis in a monilethrix pedigree. This study demonstrates linkage of monilethrix in a pedigree to microsatellite DNA loci mapping to the region on chromosome 12 containing the type II keratin cluster. A major group of structural hair proteins, the basic type II trichocyte keratins, map within this epithelial cytokeratin gene cluster. This study implicates a mutation in a trichocyte keratin gene in the pathogenesis of a structural hair disorder.

【 授权许可】

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