Cristina Gómez González, Iván Del Campo Cano, Ana Isabel Fernández-Avila, Maria Paz Suárez-Mier, María José Sagastizábal, Reyes Álvarez García-Rovés, Irene Méndez Fernández, Silvia Vilches, Miriam Centeno Jiménez, Ana Siles Sánchez-Manjavacas, Ana Usano Carrasco, Emiliano Gonzalez-Vioque, Juan Pablo Ochoa, Constancio Medrano, Esther González López, Pablo García-Pavía, Javier Bermejo, María Angeles Espinosa Castro
Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members. All the cases harbored biallelic PPA2 variants in compound heterozygous status. Two brothers from family 1 suffered sudden death after a small first intake of alcohol in 2013 and 2022...
April 4, 2024: Gene