Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

• Published in: Scientific reports Vol. 10; no. 1; p. 15135
• Main Authors: Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 15.09.2020
• Subjects: 631/208/200; 631/208/737; 692/4019/592; Adult; Exons; Female; Genetic Markers; Humanities and Social Sciences; Humans; Incidence; Male; multidisciplinary; Mutation, Missense; Pulmonary Arterial Hypertension - epidemiology; Pulmonary Arterial Hypertension - genetics; Pulmonary Arterial Hypertension - pathology; RNA Splicing; Science; Science (multidisciplinary); Spain - epidemiology; Sulfonylurea Receptors - genetics; Young Adult; Spain

Pulmonary Arterial Hypertension (PAH) is a rare and fatal disease where knowledge about its genetic basis continues to increase. In this study, we used targeted panel sequencing in a cohort of 624 adult and pediatric patients from the Spanish PAH registry. We identified 11 rare variants in the ATP-b...