In Vitro Functional Characterization of Splicing Variants of the APOB Gene Found in Familial Hypobetalipoproteinemia.

•APOB gene variants may be the cause of familial hypobetalipoproteinemia (FHBL-1).•Six rare APOB intronic variants involving splice sites were found in FHBL-1 subjects.•The functional impact of each variant was assessed in vitro using minigene strategy.•Four variants were found to generate abnormal transcripts encoding truncated apoBs.