title: Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
abstract: Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants. We report here the first case of a patient with congenital reticular ichthyosiform erythroderma carrying a mutation in KRT10 that does not lead to an arginine-rich reading frame. Novel clinical features found in patients with congenital reticular ichthyosiform erythroderma are described, such as mental retardation, spasticity, facial dysmorphisms, symblepharon and malposition of the 4th toe.
authors.affiliation: Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.
authors.forename: Alrun
authors.initials: A
authors.lastname: Hotz
authors.forename: Vinzenz
authors.initials: V
authors.lastname: Oji
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Bourrat
authors.forename: Nathalie
authors.initials: N
authors.lastname: Jonca
authors.forename: Juliette
authors.initials: J
authors.lastname: Mazereeuw-Hautier
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Ulrike
authors.initials: U
authors.lastname: Blume-Peytavi
authors.forename: Karola
authors.initials: K
authors.lastname: Stieler
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Ines
authors.initials: I
authors.lastname: Schönbuchner
authors.forename: Susanne
authors.initials: S
authors.lastname: Markus
authors.forename: Nina
authors.initials: N
authors.lastname: Schlipf
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics*; D017490:Ichthyosis, Lamellar / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D053556:Keratin-1 / Q000235:genetics*; D053550:Keratin-10 / Q000235:genetics*; D053557:Keratin-2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C491616:KRT1 protein, human; C507493:KRT10 protein, human; C089241:KRT2 protein, human; D053556:Keratin-1; D053557:Keratin-2; D053550:Keratin-10