Identification of a new <i>COQ4</i> spliceogenic variant causing severe primary coenzyme Q deficiency.

ABSTRACT:

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.

Materials and methods

Both fibroblasts from a proband with COQ4 deficiency and a COQ4 knockout cell model have been characterized by a combination of biochemical and genetic analysis (HPLC lipid analysis, Oxygen consumption, minigene analysis, RNAseq, among others).

Results

Here,

SUBMITTER: Alcazar-Fabra M 

PROVIDER: S-EPMC11699292 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature