ABCMdb

PMID: 26073400

van Capelleveen JC, Kootte RS, Hovingh GK, Bochem AE
Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.
J Clin Lipidol. 2015 May-Jun;9(3):396-9. doi: 10.1016/j.jacl.2015.01.006. Epub 2015 Jan 28., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCA1 p.Asn1800His One mutation in the ATP-binding cassette transporter 1 (ABCA1) gene, c.A5398C, p.Asn1800His, and a mutation in the apolipoprotein A1 (APOA1) gene, c.T6051C; p.Leu202Pro. Login to comment 44 ABCA1 p.Asn1800His ABCA1 p.Asn1800His The mutation found in the ABCA1 gene (c.A5398C) results in an amino acid change of asparagine to histidine at position 1800 (p.N1800H). Login to comment 48 ABCA1 p.Asn1800His The role of ABCA1 mutations in CVD risk has recently been quantified in heterozygous carriers of functional ABCA1 mutations (including p.N1800H), who were shown to be characterized by an increased atherosclerotic burden, as assessed by 3-T magnetic resonance imaging of the carotid arteries.9 The additional mutation in the APOA1 gene, c.C605T, results in the change of leucine for proline at position 202 (p.L202P). Login to comment 57 ABCA1 p.Cys1477Arg Many case studies in these patients have reported premature atherosclerosis, indicating a clear association of HDL-C deficiency with CVD risk.14,15 Although the extreme rarity of the genetic combination and possible referral bias does preclude us from drawing firm conclusions regarding the etiology of atherosclerosis in this patient, we feel that the low HDL-C and corresponding impairment in RCT is an important factor.14,15 The genetic basis of the low HDL-C in one of the recently described families with HDL-C deficiency16 was in fact, a combination of ABCA1 (p.Cys1477Arg) and APOA1 (p.Lys130del) mutations, which has also been shown to be well characterized for the impact on RCT.8,9,17 Conclusion In this report, we present a patient with extremely low HDL-C levels based on a unique combined deficiency of ABCA1 and apoA-1. Login to comment