ABCMdb

PMID: 18625867

Theaudin M, Couvert P, Fournier E, Bouige D, Bruckert E, Perrotte P, Vaschalde Y, Maisonobe T, Bonnefont-Rousselot D, Carrie A, Le Forestier N
Lewis-Sumner syndrome and Tangier disease.
Arch Neurol. 2008 Jul;65(7):968-70., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCA1 p.Arg587Trp Results: After initially unsuccessful treatment with intravenously administered immunoglobulins, the finding of an abnormal lipid profile led to the diagnosis of Tangier disease due to the R587W mutation in the ad- enotriphosphate-binding cassette transporter-1 gene (ABCA1) (OMIM 9q22-q31). Login to comment 33 ABCA1 p.Arg587Trp A sequencing of the 50 exons of ABCA1 led to the identification of a homozygous substitution in exon 14 (c.1759C࢐T), R587W, which has already been reported in a family with Tangier disease.5 Both parents of the patient were heterozygous for this mutation. Login to comment 34 ABCA1 p.Arg587Trp A sequencing of the 50 exons of ABCA1 led to the identification of a homozygous substitution in exon 14 (c.1759C→T), R587W, which has already been reported in a family with Tangier disease.5 Both parents of the patient were heterozygous for this mutation. Login to comment 47 ABCA1 p.Arg587Trp The abnormallipoproteinprofileledtothediagnosisofTangier disease and identification of the R587W homozygous mutation in exon 14 of ABCA1. Login to comment 50 ABCA1 p.Arg587Trp The abnormallipoproteinprofileledtothediagnosisofTangier disease and identification of the R587W homozygous mutation in exon 14 of ABCA1. Login to comment 61 ABCA1 p.Arg587Trp The R587W homozygous mutation in exon 14 of ABC1 has been reported in only 1 Italian family.5 The proband had severe premature coronary heart disease and a mild clinical phenotype of Tangier disease without neuropathy andwithanormaltriglyceridelevel.Fromthiscase,Bertolini etal5 suggestthattheR587Wmutationmightaffectthefunc- tion of ABCA1, specifically in the intima of the arterial wall, and have a much lower effect on ABCA1 function in other locations such as the peripheral nerves. Login to comment 64 ABCA1 p.Arg587Trp The R587W homozygous mutation in exon 14 of ABC1 has been reported in only 1 Italian family.5 The proband had severe premature coronary heart disease and a mild clinical phenotype of Tangier disease without neuropathy andwithanormaltriglyceridelevel.Fromthiscase,Bertolini etal5 suggestthattheR587Wmutationmightaffectthefunc- tion of ABCA1, specifically in the intima of the arterial wall, and have a much lower effect on ABCA1 function in other locations such as the peripheral nerves. Login to comment