Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

ABSTRACT: The aim of this study was to investigate coenzyme Q10 (CoQ₁₀) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis of their condition. Following negative IRD gene panel analysis, patients carrying biallelic variants in CoQ₁₀ biosynthesis pathway genes were identified. Clinical data were collected from the medical records. Haplotypes harbouring the same missense variant were characterised from family genome sequencing (GS) data and direct Sanger sequencing. Candidate splice variants were characterised using Oxford Nanopore Technologies single molecule sequencing. The CoQ₁₀ status of the human plasma was determined in some of the stud

SUBMITTER: Jurkute N 

PROVIDER: S-EPMC9581764 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature