A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.

ABSTRACT: 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, and android fat distribution. This mutation is rare in the general population (frequency 0.013% in GnomAD) and was predicted pathogenic by a set of pathogenicity prediction software. Patient-derived fibroblasts showed nuclear shape abnormalities and premature senescence features, which are two typical cellular phenotypes associated with laminopathies. Moreover, we observed a

SUBMITTER: Varlet AA 

PROVIDER: S-EPMC8750194 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature