期刊
ANNALS OF CLINICAL BIOCHEMISTRY
卷 47, 期 -, 页码 487-490出版社
SAGE PUBLICATIONS INC
DOI: 10.1258/acb.2010.010089
关键词
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资金
- British Heart Foundation [RG2008/008]
- Departments of Health and Trade and Industry
- British Heart Foundation [RG/08/008/25291] Funding Source: researchfish
Autosomal dominant hypercholesterolaemia is genetically heterogeneous, but most commonly (similar to 93%) caused by mutations in low-density lipoprotein receptor (LDLR), where the disease is known as familial hypercholesterolaemia (FH), or apolipoprotein B-100 (APOB) (similar to 5.5%), where the disease is known as familial defective APOB (FOB), while in similar to 2% of patients the mutation is in the proprotein convertase subtilisin/kexin type 9 gene. Homozygous FH having inheritance of two LDLR mutations is a rare but recognized syndrome associated with an extreme hypercholesterolaemia and early-onset coronary artery disease. We present a 15-year-old girl with untreated total cholesterol levels of 8.8 mmol/L who was heterozygous for both the LDLR p.Leu479Pro and APOB p.Arg3527Gln mutation. Cascade testing confirmed the paternal origin of the LDLR mutation and revealed a maternal diagnosis of FDB. This case provides further evidence that the combined effect of an LDLR and an APOB mutation give rise to a phenotype more severe than either mutation alone and is more severe than homozygous FDB, but less severe than homozygous FH. It also highlights the need to consider the presence of additional mutations in families where relatives have varying phenotypes.
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