Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagnosis of an increasing number of patients. Still, f...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo
Format:	Article
Language:	English
Published:	Elsevier 2025-03-01
Subjects:	COQ4 Coenzyme Q10 deficiency Spliceogenic variant Mitochondrial disorder Hybrid minigene WES
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426924001290