Colin P Farrell, Gaël Nicolas, Robert J Desnick, Charles J Parker, Jerome Lamoril, Laurent Gouya, Zoubida Karim, Dimitri Tchernitchko, Brenden Chen, Herve Puy, John D Phillips
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...
November 1, 2021: Blood Advances