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Article Dans Une Revue Blood Advances Année : 2022

ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria

Colin P Farrell
Robert Desnick
Charles J Parker
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Jerome Lamoril
Laurent Gouya
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Zoubida Karim
Dimitri Tchernitchko
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Brenden Chan
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Herve Puy
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John D Phillips
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Résumé

The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a symptomatic proband, penetrance is higher. These observations suggest that genetic factors, in addition to mutation of the specific enzyme of the biosynthetic pathway of heme, contribute to the clinical phenotype. Recent studies by others suggested that the genotype of the transporter protein ABCB6 contribute to the porphyria phenotype. Identifying the molecule(s) that are transported by ABCB6 has been problematic and has led to uncertainty with respect to how or if variants/mutants contribute to phenotypic heterogeneity. Knockout mouse models of Abcb6 have not provided a direction for investigation as homozygous knockout animals do not have a discrete phenotype. To address the proposed link between ABC6 genotype and porphyria phenotype, a large cohort of patients with acute hepatic porphyria and erythropoietic protoporphyria was analyzed. Our studies showed that ABCB6 genotype did not correlate with disease severity. Therefore, genotyping of ABCB6 in patients with acute hepatic porphyria and erythropoietic protoporphyria is not warranted.
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2021 Farell*, Nicolas* & al - ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.pdf (365.72 Ko) Télécharger le fichier
2021 Farell*, Nicolas* & al - ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria [SUP DATA].pdf (452.22 Ko) Télécharger le fichier
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Dates et versions

hal-03483658 , version 1 (25-11-2021)
hal-03483658 , version 2 (16-12-2021)

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Paternité - Pas d'utilisation commerciale

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Citer

Colin P Farrell, Gaël Nicolas, Robert Desnick, Charles J Parker, Jerome Lamoril, et al.. ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria. Blood Advances, 2022, 6 (3), pp.760-766. ⟨10.1182/bloodadvances.2021005484⟩. ⟨hal-03483658v2⟩

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