ABCMdb

PMID: 14644402

Kuivenhoven JA, Hovingh GK, van Tol A, Jauhiainen M, Ehnholm C, Fruchart JC, Brinton EA, Otvos JD, Smelt AH, Brownlee A, Zwinderman AH, Hayden MR, Kastelein JJ
Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size.
Atherosclerosis. 2003 Dec;171(2):311-9., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCA1 p.Cys1477Arg ABCA1 p.Cys1477Arg The proband of family 1 suffered from TD and was found to be compound heterozygote for two ABCA1 gene defects: A missense mutation (T→C at position 4824) resulting in C1477R, and a non-sense defect (IVS25 + 1G to C) that caused differential splicing. Login to comment 49 ABCA1 p.Met1091Thr In family 2, two sisters with near complete HDL deficiency (HDL-cholesterol levels of 0.06 and 0.1 mmol/l, respectively) were found to only be heterozygous for a missense mutation (T3212C) resulting in M1091T. Login to comment 53 ABCA1 p.Pro2150Leu ABCA1 p.Pro2150Leu In family 3, eight subjects were found to be heterozygous for a C→T nucleotide substitution at position 6844 resulting in P2150L. Login to comment 56 ABCA1 p.Thr929Ile ABCA1 p.Thr929Ile He was found to be compound heterozygous for two ABCA1 defects: a missense mutation (C→T at position 3181 resulting in T929I) and a de novo non-sense mutation (GG5277, 8C) resulting in a frameshift at position 1628 (unpublished). Login to comment 57 ABCA1 p.Thr929Ile Eight family members carrying the T929I defect were included. Login to comment 141 ABCA1 p.Arg219Lys With respect to R219K that we have described to be associated with decreased TG levels [25], this can be explained by the fact that this mutation is thought to enhance ABCA1 function, while the defects studied in the present report concern loss-of-function mutations. Login to comment 181 ABCA1 p.Thr929Ile This effect was, however, mainly caused by 50% higher CETP activity levels in carriers of the T929I all siblings of family 4. Login to comment 183 ABCA1 p.Thr929Ile Thus, it is likely that the enhanced CETP activity in T929I heterozygotes is caused by other mutations or perhaps environmental factors. Login to comment 185 ABCA1 p.Met1091Thr The material and method section describes that we have excluded two female heterozygotes of family 2 who presented with a remarkable HDL-deficiency (0.1 and 0.06 mmol/l, respectively) but were only found to be heterozygous for the M1091T defect. Login to comment 186 ABCA1 p.Met1091Thr Heterozygosity for the same mutation surprisingly only resulted in half normal HDL-cholesterol in two of their sisters indicating that dominant-negative effects of M1091T are unlikely as was recently described for ABCA1 truncation mutations [38]. Login to comment