title: De novo mutations in monilethrix.
abstract: Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).
authors.affiliation: Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.forename: Karima
authors.initials: K
authors.lastname: Djabali
authors.forename: Jack
authors.initials: J
authors.lastname: Green
authors.forename: Rodney
authors.initials: R
authors.lastname: Sinclair
authors.forename: Amalia
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: Arieh
authors.initials: A
authors.lastname: Ingber
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D020816:Amino Acid Motifs; D004252:DNA Mutational Analysis; D005091:Exons; D005838:Genotype; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008239:Lysine / Q000737:chemistry; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA
chemical_list: D007633:Keratins; D008239:Lysine