PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
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Wilson, Matthew | Warman Chardon, Jodi | Vandrovcova, Jana, J | Zanetti, M. Natalia | Zamba‐papanicolaou, Eleni | Pope, Simon | Conte, Maria | Abis, Giancarlo | Liu, Yo‐tsen | Tribollet, Eloise | Botía, Juan | Ryten, Mina | Nicolaou, Paschalis | Minaidou, Anna | Christodoulou, Kyproula | Kernohan, Kristin | Eaton, Alison | Osmond, Matthew, M | Ito, Yoko | Bourque, Pierre | Jepson, James | Bello, Oscar | Bremner, Fion | Cordivari, Carla | Reilly, Mary, M | Foiani, Martha | Heslegrave, Amanda | Zetterberg, Henrik | Heales, Simon | Wood, Nicholas | Boycott, Kym | Mills, Philippa | Clayton, Peter | Kriouile, Yamna | Khorassani, Mohamed El | Aguennouz, Mhammed | Groppa, Stanislav | Marinova Karashova, Blagovesta | van Maldergem, Lionel | Nachbauer, Wolfgang | Boesch, Sylvia | Arning, Larissa | Timmann, Dagmar | Cormand, Bru | Pérez‐dueñas, Belen | Di Rosa, Gabriella | Goraya, Jatinder | Sultan, Tipu | Mine, Jun | Avdjieva, Daniela | Kathom, Hadil | Tincheva, Radka | Banu, Selina | Pineda‐marfa, Mercedes | Veggiotti, Pierangelo | Ferrari, Michel | van den Maagdenberg, Arn | Verrotti, Alberto | Marseglia, Giangluigi | Savasta, Salvatore | García‐silva, Mayte | Ruiz, Alfons Macaya | Garavaglia, Barbara | Portaro, Simona | Sanchez, Benigno Monteagudo | Boles, Richard | Papacostas, Savvas | Vikelis, Michail | Rothman, James, E | Giunti, Paola | Houlden, Henry | Chelban, Viorica | Salpietro, Vincenzo | Oconnor, Emer | Efthymiou, Stephanie | Kullmann, Dimitri | Kaiyrzhanov, Rauan | Sullivan, Roisin | Khan, Alaa Matooq | Yau, Wai Yan | Hostettler, Isabel | Papanicolaou, Eleni Zamba | Dardiotis, Efthymios | Maqbool, Shazia | Ibrahim, Shahnaz | Kirmani, Salman | Rana, Nuzhat Noureen | Atawneh, Osama | Lim, Shen‐yang | Shaikh, Farooq | Koutsis, George | Breza, Marianthi | Mangano, Salvatore | Scuderi, Carmela | Borgione, Eugenia | Morello, Giovanna | Stojkovic, Tanya | Torti, Erin | Zollo, Massimi | Heimer, Gali | Dauvilliers, Yves | Striano, Pasquale | Al‐khawaja, Issam | Al‐mutairi, Fuad | Alkuraya, Fowzan | Sherifa, Hamed | Rizig, Mie | Okubadejo, Njideka | Ojo, Oluwadamilola | Oshinaike, Olajumoke | Wahab, Kolawole | Bello, Abiodun | Abubakar, Sanni | Obiabo, Yahaya | Nwazor, Ernest | Ekenze, Oluchi | Williams, Uduak | Iyagba, Alagoma | Taiwo, Lolade | Komolafe, Morenikeji | Oguntunde, Olapeju | Pchelina, Sofya | Senkevich, Konstantin | Haridy, Nourelhoda | Shashkin, Chingiz | Zharkynbekova, Nazira | Koneyev, Kairgali | Manizha, Ganieva | Isrofilov, Maksud | Guliyeva, Ulviyya | Salayev, Kamran | Khachatryan, Samson | Rossi, Salvatore | Silvestri, Gabriella | Bourinaris, Thomas | Xiromerisiou, Georgia | Fidani, Liana | Spanaki, Cleanthe | Tucci, Arianna
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International audience.
Objective: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy.Methods: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification.
