PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

ABSTRACT:

Context

Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance.

Objective

We investigated if null variants in PLIN1 cause lipodystrophy.

Methods

As part of a targeted sequencing panel test, we sequenced PLIN1 in 2208 individuals. We also investigated the frequency of PLIN1 variants in the gnomAD database, and the type 2 diabetes knowledge portal.

Results

We identified 6/2208 (1 in 368) individuals with a PLIN1 null variant. None of these individuals had clinical or biochemical evidence of overt lipodystrophy. Additionally, 14/1

SUBMITTER: Laver TW 

PROVIDER: S-EPMC6126890 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature