Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

ABSTRACT: Primary ubiquinone (UQ) deficiency is an important subset of mitochondrial disease that is caused by mutations in UQ biosynthesis genes. To guide therapeutic efforts we sought to estimate the number of individuals who are born with pathogenic variants likely to cause this disorder. We used the NCBI ClinVar database and literature reviews to identify pathogenic genetic variants that have been shown to cause primary UQ deficiency, and used the gnomAD database of full genome or exome sequences to estimate the frequency of both homozygous and compound heterozygotes within seven genetically-defined populations. We used known population sizes to estimate the number of afflicted individuals in these populations and in the mixed population of the USA. We then performed the same analysis on predict

SUBMITTER: Hughes BG 

PROVIDER: S-EPMC5735152 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature