Hotz, Alrun and Oji, Vmzenz and Bourrat, Emmanuelle and Jonca, Nathalie and Mazereeuw-Hautier, Juliette and Betz, Regina C. and Blume-Peytavi, Ulrike and Stieler, Karola and Morice-Picard, Fanny and Schoenbuchner, Ines and Markus, Susanne and Schlipf, Nina and Fischer, Judith (2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. ACTA DERMATO-VENEREOLOGICA, 96 (4). pp. 473-478. ISSN 0001-5555, 1651-2057
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RECESSIVE EPIDERMOLYTIC HYPERKERATOSIS; ROD DOMAIN; 2B DOMAIN; BULLOSA; SIEMENS; KERATIN-1; CONFETTI; ERYTHRODERMA; PHENOTYPE; REVERSION; epidermolytic ichthyosis; congenital reticular ichthyosiform erythroderma; KRT1; KRT2; KRT10 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Mar 2019 10:12 |
| Last Modified: | 15 Mar 2019 10:12 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2704 |
Actions (login required)
 |
View Item |
