Article
A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.
Cells - 24 Dec 2021
Varlet Alice-Anaïs, Desgrouas Camille, Jebane Cécile, Bonello-Palot Nathalie, Bourgeois Patrice, Levy Nicolas, Helfer Emmanuèle, Dubois Noémie, Valero René, Badens Catherine, Beliard Sophie
Abstract excerpt
Many proteins are causative for inherited partial lipodystrophies, including lamins, the essential constituents of the nuclear envelope scaffold called the lamina. By performing high throughput sequencing on a panel of genes involved in lipodystrophies, we identified a heterozygous mutation in LMNB2 gene (c.700C > T p.(Arg234Trp)) in a female patient presenting early onset type II diabetes, hypertriglyceridemia,...
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