Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

ABSTRACT:

Background

Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed with certain pathogenic variants of genes in the coenzyme Q biosynthesis pathway. In this report, we describe a novel presentation of the disease that includes nephropathy and retinopathy without neurological involvement, and which is the result of a compound heterozygous state arising from the inheritance of two recessive potentially pathogenic variants, previously not described.

Materials and methods

Retrospective report, with complete ophthalmic examination, multimodal imaging, electroretinography, and whole exome sequencing performed o

SUBMITTER: Abdelhakim AH 

PROVIDER: S-EPMC7662744 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature