Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Human mutation - 1 Jul 2020
Gallego Diana, Leal Fátima, Gámez Alejandra, Castro Margarita, Navarrete Rosa, Sanchez-Lijarcio Obdulia, Vitoria Isidro, Bueno-Delgado María, Belanger-Quintana Amaya, Morais Ana, Pedrón-Giner Consuelo, García Inmaculada, Campistol Jaume, Artuch Rafael, Alcaide Carlos, Cornejo Veronica, Gil David, Yahyaoui Raquel, Desviat Lourdes R, Ugarte Magdalena, Martínez Aurora, Pérez Belén
Abstract excerpt
Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases of HPA. Biallelic variants of DNAJC12 were identified in 20 patients (generally neurologically asymptomatic) previously diagnosed with phenylalanine hydroxylase (PAH) deficiency...
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