ABCMdb

PMID: 25127959

Koopal C, Visseren FL, Kastelein JJ, Westerink J
Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: a family case report.
Int J Cardiol. 2014 Nov 15;177(1):e19-21. doi: 10.1016/j.ijcard.2014.07.172. Epub 2014 Aug 4., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCA1 p.Cys1477Arg The mutations were an AAG (lysine) deletion in exon 4 (c.391_393deletion; p.Lys131del) of the APOA1 gene and an ABCA1 missense mutation (c.4429TNC; p.C1477R) in exon 31. Login to comment 46 ABCA1 p.Cys1477Arg ABCA1 p.Cys1477Arg 5 - - CAC-score (MESA %) 3663 (99) 59 (99) - 0 (0) - - - 33 (95) 0 (0) - - 6. HDL-c 0.74 mmol/L CAC 0 9. HDL-c 1.18 mmol/L 3. HDL-c 0.65 mmol/L AAA + MI 4. HDL-c 0.65 mmol/L 5. HDL-c 1.00 mmol/L 7. HDL-c 1.12 mmol/L CAC 33 1. HDL-c <0.20 mmol/L CAC 3663, MI 2. HDL-c 0.28 mmol/L CAC 59 8. HDL-c 1.07 mmol/L CAC 0 10. HDL-c 0.92 mmol/L 11. HDL-c 1.27 mmol/L 78 yrs 77 yrs 52 yrs 51 yrs 51 yrs 49 yrs 45 yrs 43 yrs 25 yrs 22 yrs 20 yrs MI = myocardial infarction AAA = abdominal aortic aneurysm Male with APOA1 mutation (p.Lys131del) Female with ABCA1 mutation (p.C1477R) CAC = coronary artery calcium Male with ABCA1 mutation (p.C1477R) Female with APOA1 mutation (p.Lys131del) Fig. 1. Login to comment