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Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location
Author(s) -
Vodo D.,
Sarig O.,
Peled A.,
Samuelov L.,
Malchin N.,
GrafiCohen M.,
Sprecher E.
Publication year - 2018
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13324
Subject(s) - exon , keratin , mutation , nonsense mutation , biology , phenotype , genetics , western blot , ichthyosis , gene , microbiology and biotechnology , genomic dna , missense mutation
Summary Epidermolytic ichthyosis ( EI ) is a rare skin disorder caused by mutations in the genes KRT 1 and KRT 10 , and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT 10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12‐year‐old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT 10 first exon. The mutation was found to co‐segregate with the disease phenotype in an autosomal recessive fashion. Using real‐time quantitative PCR , we found an almost two‐fold decrease in KRT 10 expression in the patient's skin compared with the skin of healthy controls. Western blot analysis showed complete absence of keratin 10 protein in the patient's skin, suggesting early protein degradation.