Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

  title={Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia},
  author={Angelo B. Cefal{\`u} and Rossella Spina and Davide Noto and Vincenza Valenti and Valeria Ingrassia and Antonina Giammanco and Maria D. Panno and Antonina Ganci and Carlo Maria Barbagallo and Maurizio Rocco Averna},
  journal={Arteriosclerosis, Thrombosis, and Vascular Biology},
Objective—Cyclic AMP responsive element–binding protein 3–like 3 (CREB3L3) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. Approach and Results—The proband was a 49-year-old woman with high plasma triglycerides (⩽1300 mg/dL; 14… 

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