ABCMdb

PMID: 14746569

Hovingh GK, Kuivenhoven JA, Bisoendial RJ, Groen AK, van Dam M, van Tol A, Wellington C, Hayden MR, Smelt AH, Kastelein JJ
HDL deficiency and atherosclerosis: lessons from Tangier disease.
J Intern Med. 2004 Feb;255(2):299-301., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCA1 p.Cys1477Arg This patient proved to be compound heterozygous for two ABCA1 gene mutations: a splicing defect (ivs 25+IG->C) and a missense mutation (C1477R). Login to comment 28 ABCA1 p.Thr929Ile This patient was compound heterozygous for a nonsense mutation (GG5277,8C) and a de novo missense mutation (T929I; confirmed upon paternity testing). Login to comment 42 ABCA1 p.Cys1477Arg ABCA1 p.Thr929Ile Our data suggest that Table 1 Overview of cases 1 and 2 Case 1 Case 2 Gender Male Male Age 38 52 BMI (kg m)2 ) 26 27 Lipids, lipoproteins and modifying enzymes Total cholesterol (mmol L)1 ) 2.3 4.1 LDL-C (mmol L)1 ) 1.3 2.7 HDL-C (mmol L)1 ) <0.1 <0.1 Triglycerides (mmol L)1 ) 2.0 2.3 ApoAI (g L)1 ) 0.01 0.08 ApoAII (g L)1 ) 0.05 0.16 ApoB (g L)1 ) 0.51 1.26 CETP mass (mg L)1 ) 1.65 2.79 Diagnosis ABCA1 functiona Reduced 90% Reduced 70% ABCA1 gene mutations Compound heterozygous Ivs 25 ¼ IG->C; C1477R Compound heterozygous GG5277,8C; T929I Clinical Clinical manifestation of CAD Premature MI and peripheral vascular disease NO IMT mean femoral and carotid artery 1.21 mm 0.89 mm a Fibroblast cholesterol efflux to apoA-I, compared with control, measured in triplicate. Login to comment