Genetics
Novel CETP microdeletion lowers enzyme activity and raises HDL-associated cholesterol in three carriers (Clin Genet 2016)
Original title: A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Researchers identified a novel, inherited 16q13 microdeletion removing the cholesteryl ester transfer protein (CETP) gene and several neighboring genes in a proband referred for severe childhood-onset obesity and moderate developmental delay. Despite the obesity, fasting lipid profile showed relatively high HDL cholesterol and relatively low LDL cholesterol for age, and testing of first-degree relatives identified two additional carriers. Functional assays confirmed that carriers had decreased CETP mRNA expression and enzymatic activity. Based on the lipid profile, functional studies, and the phenotype of previously described loss-of-function CETP mutation carriers, the authors conclude this microdeletion is likely antipathogenic for cardiovascular disease, whatever its uncertain relationship to the obesity and developmental delay.
Original abstract
We describe a novel, inherited 16q13 microdeletion that removes cholesteryl ester transfer protein (CETP) and several nearby genes. The proband was originally referred for severe childhood-onset obesity and moderate developmental delay, but his fasting lipid profile revealed relatively high levels of high density lipoprotein cholesterol (HDL-C) and relatively low levels of low density lipoprotein cholesterol (LDL-C) for age, despite his obesity. Testing of first-degree relatives identified two other microdeletion carriers. Functional assays in affected individuals showed decreased CETP mRNA expression and enzymatic activity. This microdeletion may or may not be pathogenic for obesity and developmental delay, but based on the lipid profile, the functional studies, and the phenotype of other patients with loss-of-function mutations of CETP, we believe this microdeletion to be antipathogenic for cardiovascular disease.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.