biostudies-literatureVahidnezhad HNIAID NIH HHSNational Institutes of HealthNIAMS NIH HHS1706-1731https://www.ebi.ac.uk/biostudies/studies/S-EPMC9771971biostudies-literatureUnknown43(12)Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and an autosomal recessive form of EBS, which may associate with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In this study, genotyping of over 600 Iranian patients with epidermolysis bulloHuman mutationMutation update: The spectra of PLEC sequence variants and related plectinopathies.PMC9771971R01 AR028450R01 AI143810Mozafari NMansouri PVahidnezhad HUitto JSotoudeh SZeinali STavasoli ARHarvey NYoussefian LSaeidian AHMahmoudi HZargari OVarghaei AfalseMutation update: The spectra of PLEC sequence variants and related plectinopathies.Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and an autosomal recessive form of EBS, which may associate with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In this study, genotyping of over 600 Iranian patients with epidermolysis bullo2022-01-01T00:00:00Z2022 Dec2025-04-04T09:50:17.144Z2025-02-19T01:17:31.769ZS-EPMC97719713581534310.1002/humu.24434