title: Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix.
abstract: Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. This disorder has been reported to be caused by mutations in the helix termination motif of two type II cortex keratins, hHb1 and hHb6. Here we describe a Japanese monilethrix family that has the most frequent mutation, the E413K mutation in hHb6, so far found in 26 families. Genotype/phenotype correlation was not obvious in our case or in the previously reported cases.
authors.affiliation: Department of Dermatology, Juntedo University School of Medicine, Tokyo, Japan.
authors.forename: Shigenori
authors.initials: S
authors.lastname: Muramatsu
authors.forename: Tami
authors.initials: T
authors.lastname: Kimura
authors.forename: Rie
authors.initials: R
authors.lastname: Ueki
authors.forename: Ryoji
authors.initials: R
authors.lastname: Tsuboi
authors.forename: Shigaku
authors.initials: S
authors.lastname: Ikeda
authors.forename: Hideoki
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D002675:Child, Preschool; D003062:Codon; D005260:Female; D006197:Hair / Q000473:pathology; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D007564:Japan; D007633:Keratins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D003062:Codon; D007633:Keratins