Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

ABSTRACT:

Background

Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene.

Objectives

The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia.

Methods

A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene. The pathogenicity grade of the variants was defined based on the prediction of pathogenicity using in silico prediction tools. Review some studies to understand the molecular mechanisms underlying the severe hypertriglyceridemia.

Results

We identified a rare mutation in the LPL gene causing severe hypertriglyceridemia: a nuc

SUBMITTER: Qin YY 

PROVIDER: S-EPMC6817128 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature