期刊
CURRENT CARDIOLOGY REPORTS
卷 16, 期 7, 页码 -出版社
SPRINGER
DOI: 10.1007/s11886-014-0507-2
关键词
Next-generation DNA sequencing; Diagnosis Mutation; Inherited disorders; Dyslipidemia; Hypercholesterolemia; Hypertriglyceridemia; Exome sequencing; Lipoprotein disorders
资金
- Jacob J. Wolfe Distinguished Medical Research Chair
- Edith Schulich Vinet Canada Research Chair in Human Genetics
- Martha G. Blackburn Chair in Cardiovascular Research
- CIHR [MOP-13430, MOP-79523]
- Heart and Stroke Foundation of Ontario [NA-6059, T-000353]
- Genome Canada through Genome Quebec award [4530]
Several next generation sequencing platforms allow for a DNA-to-diagnosis protocol to identify the molecular basis of monogenic dyslipidemias. However, recent reports of the application of whole genome or whole exome sequencing in families with severe dyslipidemias have largely identified genetic variants in known lipid genes. To date, high-throughput DNA sequencing in families with previously uncharacterized monogenic dyslipidemias, have failed to reveal new genes for regulation of plasma lipids. This suggests that rather than sequencing whole genomes or exomes, most patients with monogenic dyslipidemias could be diagnosed using a more dedicated approach that focuses primarily on genes already known to act within lipoprotein metabolic pathways.
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