Exome Sequencing, ANGPTL3 Mutations, and Familial Combined HypolipidemiaBrief Report
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants w...
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| Veröffentlicht in: | The New England journal of medicine 2010-12, Vol.363 (23), p.2220 |
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| creator | Musunuru, Kiran Pirruccello, James P Do, Ron Peloso, Gina M Guiducci, Candace Sougnez, Carrie Garimella, Kiran V Fisher, Sheila Abreu, Justin Barry, Andrew J Fennell, Tim Banks, Eric Ambrogio, Lauren Cibulskis, Kristian Kernytsky, Andrew Gonzalez, Elena Rudzicz, Nicholas Engert, James C DePristo, Mark A Daly, Mark J Cohen, Jonathan C Hobbs, Helen H Altshuler, David Schonfeld, Gustav Gabriel, Stacey B Yue, Pin Kathiresan, Sekar |
| description | We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (Funded by the National Human Genome Research Institute and others.) |
| doi_str_mv | 10.1056/NEJMoa1002926 |
| format | Article |
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These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3 has been reported to inhibit lipoprotein lipase and endothelial lipase, thereby increasing plasma triglyceride and HDL cholesterol levels in rodents. Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. 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| ispartof | The New England journal of medicine, 2010-12, Vol.363 (23), p.2220 |
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| language | eng |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; New England Journal of Medicine |
| subjects | Age Apolipoproteins Cardiovascular disease Cholesterol Genes Genetic testing Genomes High density lipoprotein Lipids Low density lipoprotein Metabolism Mutation Plasma Regression analysis Triglycerides |
| title | Exome Sequencing, ANGPTL3 Mutations, and Familial Combined HypolipidemiaBrief Report |
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