ABCMdb

PMID: 24657386

Hansel B, Carrie A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E
Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects.
Atherosclerosis. 2014 May;234(1):162-8. doi: 10.1016/j.atherosclerosis.2014.02.030. Epub 2014 Mar 11., [PubMed]

Sentences

No. Mutations Sentence Comment

111 ABCG8 p.Arg263Gln ABCG8 p.Arg405His ABCG8 p.Arg405His ABCG8 p.Arg405His Propositus Age (years) Age at diagnosis (years) Family history of CHD History of CVD Cutaneous xanthomas Tendinous xanthoma Thrombocytopenia/ anemia Liver enzymes Genetics: mutated gene mutation allele 1 mutation allele 2 Major CV risk factors Patient 1 32 18 No No Yes Yes Yes/no N ABCG8 p.Arg405His p.Phe570del High BP: N Smoking: N Diabetes: N Patient 2 27 13 No No No Yes No/no N ABCG8 p.Arg405His p.Phe570del High BP: N Smoking: N Diabetes: N Patient 3 33 4 No No Yes Yes Yes/no Unexplained increase in transaminases during 2 years ABCG8 p.Asp160Thr p.Arg263Gln High BP: N Smoking: N Diabetes: N Patient 4 17 9 Yesa No Yes Yes No/no N ABCG8 p.Arg164* p.Tyr492* High BP: N Smoking: N Diabetes: N Patient 5 19 10 No No Yes Yes No/no N ABCG8 p.Arg405His p.Trp361* High BP: N Smoking: N Diabetes: N a Myocardial Infarction mother 47 years. Login to comment 204 ABCG8 p.Gly574Arg They compared mean plasma levels of plant sterols and cholesterol precursors and carotid intima media wall thickness in old order Amish participants with and without one copy of the ABCG8 G574R variant. Login to comment