A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

UBC Faculty Research and Publications

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels Hitchcock, Emma; Patankar, Jay V.; Tyson, Christine; Hrynchak, Monica; Hayden, Michael R.; Gibson, William T.

Abstract

We describe a novel, inherited 16q13 microdeletion that removes 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 HDL-cholesterol and low LDL-cholesterol for age, despite his obesity. Testing 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.

Item Metadata

Title	A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Creator	Hitchcock, Emma; Patankar, Jay V.; Tyson, Christine; Hrynchak, Monica; Hayden, Michael R.; Gibson, William T.
Contributor	Child and Family Research Institute
Date Issued	2015-07-23
Description	We describe a novel, inherited 16q13 microdeletion that removes 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 HDL-cholesterol and low LDL-cholesterol for age, despite his obesity. Testing 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.
Subject	Cardiovascular disease; cholesteryl ester transfer protein; common disease; copy-number variant; microdeletion; obesity; structural variant
Genre	Article
Type	Text
Language	eng
Date Available	2016-07-23
Provider	Vancouver : University of British Columbia Library
Rights	Attribution-NonCommercial-NoDerivs 2.5 Canada
DOI	10.14288/1.0132599
URI	http://hdl.handle.net/2429/54985
Affiliation	Medical Genetics, Department of; Medicine, Faculty of; Non UBC
Citation	Hitchcock, E., Patankar, J. V., Tyson, C., Hrynchak, M., Hayden, M. R., & Gibson, W. T. (2015). A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels. Clinical Genetics,
Publisher DOI	10.1111/cge.12633
Peer Review Status	Reviewed
Scholarly Level	Faculty
Copyright Holder	Clinical Genetics
Rights URI	http://creativecommons.org/licenses/by-nc-nd/2.5/ca/
Aggregated Source Repository	DSpace

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