Novel KRT83 and KRT86 mutations associated with monilethrix. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: van Steensel, Maurice; Vreeburg, Maaike; Urbina, Maria T.; López, Paul; Morice‐Picard, Fanny; van Geel, Michel
• Is Part Of: Experimental dermatology. Volume 24:Issue 3(2015:Mar.)
• Page Start: 222
• Page End: 224
• Publication Date: 2015-03
• Subjects: Dermatology -- Periodicals; 616.5
• DOI: 10.1111/exd.12624
• Languages: English
• ISSNs: 0906-6705

Abstract

<abstract abstract-type="main" id="exd12624-abs-0001"> <title>Abstract</title> <p>Monilethrix is an autosomal dominant hair disorder caused by mutations in the hard keratins KRT81, KRT83 and KRT86. The affected hairs are fragile and break easily, leading to scarring alopecia. Follicular hyperkeratosis in the neck and on extensor sides of extremities is a frequently associated finding. The disorder is rare, but probably underreported because its manifestations may be mild. Mutations in <italic>KRT81</italic> and <italic>KRT86</italic> are the most common. Here, we report new cases from Venezuela, the Netherlands, Belgium and France. The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a <italic>KRT86</italic> mutation associated with monilethrix and a <italic>KRT81</italic> variant of unknown clinical significance. In the French and Dutch patients, we found novel <italic>KRT86</italic> and <italic>KRT83</italic> mutations. Our findings expand the mutational spectrum associated with monilethrix.</p> </abstract>