ABCMdb

PMID: 11257260

Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
Atherosclerosis. 2001 Feb 15;154(3):599-605., [PubMed]

Sentences

No. Mutations Sentence Comment

116 ABCA4 p.Arg602Trp In this work we report the characterization of a new point mutation (R527W) in the ABC1 gene in a subject with severe hypoalphalipoproteinemia associated with a ''mild expression`` of the typical clinical phenotype of Tangier disease. It is likely that R527W substitution is the cause of Tangier disease in our patient for the following reasons: (1) it was not found in 200 chromosomes from normolipidemic individuals; (2) it co-segregates with the low HDL-cholesterol phenotype in proband`s family; (3) the arginine at position 527 appears to be highly conserved in the evolution, being present in the same position in mouse ABC1 protein [20]; (4) the presence of R602W mutation in the ABCR protein (a photoreceptor specific ATP-binding cassette protein expressed in human retina, which has a 50% homology with ABC1 protein) causes Stargardt disease (a recessive form of macular dystrophy) [21]. Login to comment 117 ABCA4 p.Arg602Trp In this work we report the characterization of a new point mutation (R527W) in the ABC1 gene in a subject with severe hypoalphalipoproteinemia associated with a ''mild expression`` of the typical clinical phenotype of Tangier disease. It is likely that R527W substitution is the cause of Tangier disease in our patient for the following reasons: (1) it was not found in 200 chromosomes from normolipidemic individuals; (2) it co-segregates with the low HDL-cholesterol phenotype in proband`s family; (3) the arginine at position 527 appears to be highly conserved in the evolution, being present in the same position in mouse ABC1 protein [20]; (4) the presence of R602W mutation in the ABCR protein (a photoreceptor specific ATP-binding cassette protein expressed in human retina, which has a 50% homology with ABC1 protein) causes Stargardt disease (a recessive form of macular dystrophy) [21]. Login to comment 141 ABCA1 p.Arg587Trp Thus the correct location of the mutation reported in our paper is in exon 14 (instead of 13) and the amino acid substitution is R587W (instead of R527W). Login to comment 142 ABCA1 p.Arg587Trp Thus the correct location of the mutation reported in our paper is in exon 14 (instead of 13) and the amino acid substitution is R587W (instead of R527W). Login to comment