title: Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.
abstract: Monilethrix is a rare autosomal dominant disease characterized by hair fragility and hyperkeratotic papules. Mutations in type-II hair specific keratins hHb6 and hHb1 have recently been reported. We describe a large family with a E410D mutation in the evolutionary conserved helix termination motif of keratin hHb6 that was variably expressed among 12 heterozygous members, and severely expressed among 3 homozygous members. These 3 patients had essentially complete lack of scalp hair since the age of 2 months with no improvement over time as well as follicular keratotic involvement extensively expressed over the scalp and large body areas. The variability seen in heterozygous patients, along with seasonal and pregnancy-related improvement suggest that other genetic or environmental factors may modify keratin gene expression. This represents the first report of a co-dominant keratin hHb6 mutation resulting in severe disease.
authors.affiliation: Department of Dermatology, Hadassah University Hospital, Jerusalem, Israel. zloto@cc.huji.ac.il
authors.forename: A
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: L
authors.initials: L
authors.lastname: Horev
authors.forename: B
authors.initials: B
authors.lastname: Glaser
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000502:physiology*; D005799:Genes, Dominant / Q000235:genetics / Q000502:physiology; D005820:Genetic Testing; D006201:Hair Diseases / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012016:Reference Values
chemical_list: D007633:Keratins