A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease

Bertolini, S; Seri, Marco; Cusano, Roberto; Cantàfora, Alfredo; Calabresi, Laura; Franceschini, Guido; Ravazzolo, Roberto; Calandra, Sebastiano

doi:10.1016/s0021-9150(00)00587-6

Cited by 35 publications

(31 citation statements)

References 20 publications

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“…This treatment induced a 5-fold increase of cholesterol efflux in control fibroblasts but had no effect in proband's fibroblasts. The cholesterol efflux in proband's fibroblasts was similar to that observed in another patient with TD (homozygous for R587W in ABCA1 gene) we have previously reported (13) (Fig. 2).…”

Section: Proband I1 (Family 1 Insupporting

confidence: 87%

“…Despite this unusual clinical presentation, the apoA-Imediated cholesterol efflux in the fibroblasts of this patient was found to be negligible and similar to that of another TD patient homozygous for a missense mutation in ABCA1 gene we previously genotyped (13).…”

Section: Discussionsupporting

confidence: 67%

“…Since the cloning of ABCA1 cDNA (GenBank no. AF285167), more than 40 mutations of this gene have been reported in patients with TD and FHD (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17).…”

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confidence: 99%

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Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Altilia

Pisciotta

Garuti

et al. 2003

Journal of Lipid Research

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Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i ) G Ͼ C in intron 2 (IVS2 ؉ 5G Ͼ C) and ii ) c.844 C Ͼ T in exon 9 (R282X). The IVS2 ؉ 5G Ͼ C mutation was also found in the brother of another deceased TD patient, but not in 78 controls and 33 subjects with low HDL. The IVS2 ؉ 5G Ͼ C mutation disrupts ABCA1 pre-mRNA splicing in fibroblasts, leading to three abnormal mRNAs: devoid of exon 2 (Ex2 Ϫ /mRNA), exon 4 (Ex4 Ϫ /mRNA), or both these exons (Ex2 Ϫ /Ex4 Ϫ / mRNA), each containing a translation initiation site. These mRNAs are expected either not to be translated or generate short peptides. To investigate the in vitro effect of IVS2 ؉ 5G Ͼ C mutation, we constructed two ABCA1 minigenes encompassing Ex1-Ex3 region, one with wild-type (WTgene) and the other with mutant (MTgene) intron 2. These minigenes were transfected into COS1 and NIH3T3, two cell lines with a different ABCA1 gene expression. In COS1 cells, WTgene pre-mRNA was spliced correctly, while the splicing of MTgene pre-mRNA resulted in Ex2 Ϫ /mRNA. In NIH3T3, no splicing of MTgene pre-mRNA was observed, whereas WTgene pre-mRNA was spliced correctly. These results stress the complexity of ABCA1 pre-mRNA splicing in the presence of splice site mutations.-Altilia, S., L. Pisciotta, R. Garuti, P. Tarugi

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Section: Proband I1 (Family 1 Insupporting

confidence: 87%

Section: Discussionsupporting

confidence: 67%

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Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Altilia

Pisciotta

Garuti

et al. 2003

Journal of Lipid Research

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“…It is unknown whether she had "yellow orange" tonsils due to their removal at an earlier age and the unavailability of a record of their coloration. Her only features consistent with Tangier disease were low HDL and significant coronary artery disease, which makes it unique compared to other cases discussed in the literature (Bertolini et al 2001;Ishii et al 2002;Pichit et al 2010;Hooper et al 2009), all of whom presented with at least one typical finding of Tangier disease, expect for one patient who never developed any clinical features (Hooper et al 2009). This leads us to infer that there may be a higher prevalence of patients with compound heterozygous mutations leading to a clinical presentation which may vary between classical Tangier disease and low HDL levels.…”

Section: Discussionmentioning

confidence: 80%

“…There is no specific treatment and medications traditionally used to increase HDL are ineffective. A number of cases of non-classical Tangier disease have been described in the literature (Bertolini et al 2001;Ishii et al 2002;Pichit et al 2010;Hooper et al 2009). These patients had low total plasma cholesterol and HDL cholesterol levels, premature coronary artery disease, corneal lesions and hepatosplenomegaly, and one of them had thrombocytopenia.…”

Section: Introductionmentioning

confidence: 99%

A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

et al. 2011

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Lewis-Sumner Syndrome and Tangier Disease

Théaudin¹,

Couvert²,

Fournier³

et al. 2008

Arch Neurol

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A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome.Main Outcome Measures: Electrophysiologic data in Tangier disease.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 adenotriphosphate-binding cassette transporter-1 gene (ABCA1) (OMIM 9q22-q31). Conclusions: Conduction block, which is the electrophysiologic hallmark of focal demyelination, can be present in Tangier disease. It could be induced by focal nerve ischemia or by preferential lipid deposition in the paranodal regions of myelinated Schwann cells. The presence of a conduction block in Tangier disease may lead to a misdiagnosis of dysimmune neuropathy.

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A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease

Cited by 35 publications

References 20 publications

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

Lewis-Sumner Syndrome and Tangier Disease

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