In vitro functional characterization of splicing variants of the APOB gene found in Familial Hypobetalipoproteinemia

Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. Rare exonic pathogenic variants of APOB gene (nonsense variants, minute deletions/insertions and nonsynonymous variants) have been frequently reported in subjects with FHBL-1. Also rare intronic variants of APOB located at intron/exon junctions and assumed to affect splicing have been reported. However the pathogenicity of most of these intronic variants remains to be established.

Source: Journal of Clinical Lipidology - September 11, 2019 Category: Lipidology Authors: Claudio Rabacchi, Maria Luisa Simone, Livia Pisciotta, Enza Di Leo, Davide Bocchi, Antonello Pietrangelo, Sergio D ’Addato, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi Tags: Original Research Source Type: research