Exome sequencing, mutations in ANGPTL3, and familial combined hypolipidemia


Musunuru K*, Pirruccello JP*, Do R*, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB*, Yue P*, Kathiresan S*. PMID: 20942659 (cited by 156).

This is among the first successful applications of exome sequencing to discover a gene for a cardiovascular condition.  Here, we described a new Mendelian condition and discovered the causal gene.  This novel observation in humans immediately suggested ANGPTL3 as a therapeutic target.  In addition, we uncovered an entirely new mechanism for the regulation of LDL cholesterol.

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