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 - 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