title: A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
abstract: Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been described in two separate kindreds. Individuals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. Characteristically, they also develop intermittent bouts of annular and polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. We now describe a third kindred with annular epidermolytic ichthyosis. Molecular analysis of this family revealed a novel mutation resulting in an isoleucine to threonine substitution at residue 107 (codon 446) within the highly conserved helix termination motif at the end of the rod domain of keratin 10.
authors.affiliation: Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: K O
authors.initials: KO
authors.lastname: Duncan
authors.forename: P W
authors.initials: PW
authors.lastname: Heald
authors.forename: D R
authors.initials: DR
authors.lastname: Roop
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D014644:Genetic Variation; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D007057:Ichthyosis / Q000235:genetics*; D053550:Keratin-10; D007633:Keratins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D017421:Sequence Analysis
chemical_list: C507493:KRT10 protein, human; D053550:Keratin-10; D007633:Keratins