HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Bergson S, Sarig O, Giladi M, Mohamad J, Mogezel-Salem M, Smorodinsky-Atias K, Sade O, Manori B, Assaf S, Malovitski K, Feller Y, Pavlovsky M, Hainzl S, Kocher T, Hummel JI, Eretz Kdosha N, Khair LG, Zauner R, Pinon Hofbauer J, Shalom-Feuerstein R, Wally V, Koller U, Samuelov L, Haitin Y, Ashery U, Rubinstein R, Sprecher E.
Bergson S, et al.
J Exp Med. 2025 May 5;222(5):e20240827. doi: 10.1084/jem.20240827. Epub 2025 Feb 20.
J Exp Med. 2025.
PMID: 39976600
Free PMC article.
We identified three deleterious variants in HMCN1 that co-segregated with a more severe phenotype in a group of 20 individuals with EBS caused by mutations in KRT14, encoding keratin 14 (K14). HMCN1 codes for hemicentin-1. Protein modeling, molecular dynamics …
We identified three deleterious variants in HMCN1 that co-segregated with a more severe phenotype in a group of 20 individuals with EBS caus …