Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Bartłomiej Gielniewski, Bartosz Wojtaś, Alicja Szabelska-Beręsewicz, Joanna Zyprych-Walczak, Adriana Mika, Andrzej Tysarowski, Katarzyna Duk, Agnieszka Magdalena Rygiel, Katarzyna Niepokój, Katarzyna Woźniak, Cezary Kowalewski, Jolanta Wierzba, Aleksandra Jezela-Stanek
Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in LORICRIN have been described, with all of them but one being deletions or insertions. The significance of rare nonsense variants remains unclear. Furthermore, no data regarding the RNA expression in affected patients are available. The aim of this study is to describe the two variants in the LORICRIN gene found in two distinct families: the novel pathogenic variant c...
May 29, 2023: International Journal of Molecular Sciences