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,...

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Detalles Bibliográficos
Autores: Alcázar-Fabra, María, Østergaard, Elsebet, Fernández-Ayala, Daniel J. M., Desbats, María Andrea, Morbidoni, Valeria, Tomás-Gallardo, Laura, García-Corzo, Laura, Blanquer-Rosselló, María del Mar, Bartlett, Abigail K., Sánchez-Cuesta, Ana, Sena, Lucía, Cortés-Rodríguez, Ana Belén, Cascajo Almenara, M. V., Pagliarini, David J., Trevisson, Eva, Gronborg, Sabine W., Brea-Calvo, Gloria
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/394867
Acceso en línea:http://hdl.handle.net/10261/394867
Access Level:acceso abierto
Palabra clave:COQ4
Coenzyme Q10 deficiency
Spliceogenic variant
Mitochondrial disorder
Hybrid minigene
WES
Descripción
Sumario:[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, functional validation of new variants of uncertain significance is essential for an adequate diagnosis, proper clinical management, treatment, and genetic counseling.

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