Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

ABSTRACT:

Context

Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metabolism, have been implicated in familial partial lipodystrophy type 4 (FPLD4), a rare entity with only six families reported worldwide. The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general population.

Objectives

To reevaluate the pathogenicity of PLIN1 frameshift variants owing to new data obtained in the largest series of patients with FPLD4.

Methods

We performed histological and molecular studies for patients referred to our French

SUBMITTER: Jeru I 

PROVIDER: S-EPMC6916795 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature