Redefining infantile-onset multisystem phenotypes of coenzyme Q₁₀-deficiency in the next-generation sequencing era.

ABSTRACT: Primary coenzyme Q₁₀ (CoQ₁₀) deficiency encompasses a subset of mitochondrial diseases caused by mutations affecting proteins involved in the CoQ₁₀ biosynthetic pathway. One of the most frequent clinical syndromes associated with primary CoQ₁₀ deficiency is the severe infantile multisystemic form, which, until recently, was underdiagnosed. In the last few years, the availability of genetic screening through whole exome sequencing and whole genome sequencing has enabled molecular diagnosis in a growing number of patients with this syndrome and has revealed new disease phenotypes and molecular defects in CoQ₁₀ biosynthetic pathway genes. Early genetic screening can rapidly and non-invasively diagnose primary CoQ₁₀ deficiencies

SUBMITTER: Berardo A 

PROVIDER: S-EPMC7791541 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature