A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

Ida Surakka, PhD; Whitney E. Hornsby, PhD; Linda Farhat, MS; Melvyn Rubenfire, MD; Lars G. Fritsche, PhD; Kristian Hveem, MD, PhD; Y. Eugene Chen, MD, PhD; Robert D. Brook, MD; Cristen J. Willer, PhD; Richard L. Weinberg, MD, PhD

JACC: Case Reports (May 2020)

A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

Ida Surakka, PhD,
Whitney E. Hornsby, PhD,
Linda Farhat, MS,
Melvyn Rubenfire, MD,
Lars G. Fritsche, PhD,
Kristian Hveem, MD, PhD,
Y. Eugene Chen, MD, PhD,
Robert D. Brook, MD,
Cristen J. Willer, PhD,
Richard L. Weinberg, MD, PhD

Affiliations

Ida Surakka, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan
Whitney E. Hornsby, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan
Linda Farhat, MS: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan
Melvyn Rubenfire, MD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan
Lars G. Fritsche, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan
Kristian Hveem, MD, PhD: K.G. Jebsen Center for Genetic Epidemiology and Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; HUNT Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, Norway
Y. Eugene Chen, MD, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Michigan Medicine, Ann Arbor, Michigan
Robert D. Brook, MD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan
Cristen J. Willer, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan; Department of Computational Medicine and Bioinformatics and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
Richard L. Weinberg, MD, PhD: University of Michigan, Michigan Medicine, Ann Arbor, Michigan; Department of Internal Medicine, Division of Cardiovascular Medicine, Michigan Medicine, Ann Arbor, Michigan; Address for correspondence: Dr. Richard L. Weinberg, 1500 East Medical Center Drive, SPC 5853, Cardiovascular Center Room 2713, Ann Arbor, Michigan 48109.

Journal volume & issue: Vol. 2, no. 5
pp. 775 – 779

Abstract

Read online

A novel frameshift variant was identified in APOB that segregates in a dominant manner with low levels of low-density lipoprotein cholesterol. Affected family members show no apparent clinical complications. There is no consensus regarding clinical management, and the long-term consequences of low levels of low-density lipoprotein cholesterol remain unknown. (Level of Difficulty: Advanced.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

Keywords