Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

摘要: Desmosomes are intercellular adhesive junctions and attachment sites for the intermediate filament (IF) cytoskeleton, prominent in tissues subject to high levels of mechanical stress such as epidermis heart. The obligate desmosomal constituent, plakoglobin (PG), is involved coupling transmembrane components with IFs. PG also contributes adhesion through adherens has additional signaling roles. To date, two mutations gene encoding PG, JUP, have been described, both instances, patients harboring pathogenic suffered from arrhythmogenic right ventricular cardiomyopathy or without skin abnormalities. We describe homozygous nonsense mutation, p.S24X, splice site c.468G>A, JUP that results fragility, diffuse palmoplantar keratoderma, woolly hair no symptoms cardiomyopathy. show barely detectable immunostaining sections these an alternative AUG codon p.S24X mRNA translates a 42-amino-acid N-terminal truncation. conclude required correct maintenance integrity, absence heart phenotype suggests aberrant expression does not compromise normal human development children. Our findings provide new insight into distinct roles