title: Novel KRT83 and KRT86 mutations associated with monilethrix.
abstract: 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 KRT81 and KRT86 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 KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance. In the French and Dutch patients, we found novel KRT86 and KRT83 mutations. Our findings expand the mutational spectrum associated with monilethrix.
authors.affiliation: Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.
authors.forename: Maurice
authors.initials: M
authors.lastname: van Steensel
authors.forename: Maaike
authors.initials: M
authors.lastname: Vreeburg
authors.forename: Maria T
authors.initials: MT
authors.lastname: Urbina
authors.forename: Paul
authors.initials: P
authors.lastname: López
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
mesh_terms: D005260:Female; D006801:Humans; D053564:Keratins, Hair-Specific / Q000235:genetics*; D053531:Keratins, Type II / Q000235:genetics*; D008297:Male; D056734:Monilethrix / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C507600:KRT81 protein, human; C507602:KRT83 protein, human; C507605:KRT86 protein, human; D053564:Keratins, Hair-Specific; D053531:Keratins, Type II
keywords: KRT81; KRT83; KRT86; hard keratin; monilethrix