A cautionary tale: Is this APOB whole-gene duplication actually pathogenic?

A 22 year-old woman presented with elevated LDL cholesterol and clinically suspected familial hypercholesterolemia (FH). Initial genetic analysis by Sanger sequencing found no causal variants in LDLR or other FH genes. More than a decade later, her 9 year-old daughter was also found to have elevated LDL cholesterol. Re-analysis using current genetic methodology detected a novel whole-gene duplication of APOB in both individuals, which was tentatively assumed to explain their elevated LDL cholesterol based mainly on biological plausibility.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Case Report Source Type: research