Genetics
A family study traces complete CETP deficiency to an intron 14 splicing defect found on a routine health check (Intern Med 1994)
Original title: A family with complete deficiency of plasma cholesteryl ester transfer protein activities
A 43-year-old man with an unusually high HDL cholesterol level of 151 mg/dl was identified during a routine annual health check, prompting investigation of his CETP activity and a family study. Complete deficiency of CETP activity was found in the proband and his sister, while his mother and daughter showed partial deficiency, indicating a heritable pattern. Genetic analysis identified a G-to-A point mutation splicing defect in intron 14 of the CETP gene as the underlying cause, adding another documented family with this specific CETP splicing mutation.
Original abstract
A 43-year-old male with a high value of high density lipoprotein cholesterol (151 mg/dl) was found among subjects receiving annual health checks. We investigated the cholesteryl ester transfer protein (CETP) activity and conducted a family study. There was complete deficiency of CETP activities in the proband and his sister, and partial deficiency of CETP activities in his mother and daughter. Genetic analysis revealed a splicing defect (G to A point mutation) in intron 14 of the CETP gene.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.