Researchers and clinicians at Massachusetts General Hospital report their use of exome sequencing to identify two nonsense mutations in ANGPTL3 as a cause of hypolipidemia in the New England Journal of Medicine this week. With funding from the National Human Genome Research Institute, among other sources, the Mass General team sequenced the complete exomes of two family members with combined hypolipidemia and found that they were both "compound heterozygotes for two distinct nonsense mutations in ANGPTL3" — the gene that encodes the angiopoietin-like 3 protein, which has been shown to increase 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," the authors write.
The Exome Scores Again
Oct 14, 2010