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

Authors :: 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
Source :: JACC: Case Reports, Vol 2, Iss 5, Pp 775-779 (2020)
Publication Year :: 2020
Publisher :: Elsevier, 2020.
Abstract: 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.)

Subjects :: apolipoprotein B loss-of-function
hypobetalipoproteinemia
low-density lipoprotein cholesterol
Diseases of the circulatory (Cardiovascular) system
RC666-701

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