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

  • Abdelhakim, Aliaa H.1
  • Dharmadhikari, Avinash V.1
  • Ragi, Sara D.1
  • de Carvalho, Jose Ronaldo Lima Jr.1, 2
  • Xu, Christine L.1
  • Thomas, Amanda L.1
  • Buchovecky, Christie M.1
  • Mansukhani, Mahesh M.1
  • Naini, Ali B.1
  • Liao, Jun1
  • Jobanputra, Vaidehi1
  • Maumenee, Irene H.1
  • Tsang, Stephen H.1
  • 1 Columbia University Irving Medical Center, New York, NY, USA , New York (United States)
  • 2 Federal University of Pernambuco (UFPE), Recife, Pernambuco, Brazil , Recife (Brazil)
Published Article
Orphanet Journal of Rare Diseases
Springer (Biomed Central Ltd.)
Publication Date
Nov 13, 2020
DOI: 10.1186/s13023-020-01600-8
Springer Nature


BackgroundPrimary 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 methodsRetrospective report, with complete ophthalmic examination, multimodal imaging, electroretinography, and whole exome sequencing performed on a family with three affected siblings.ResultsWe show that affected individuals in the described family inherited two heterozygous variants of the COQ2 gene, resulting in a frameshift variant in one allele, and a predicted deleterious missense variant in the second allele (c.288dupC,p.(Ala97Argfs*56) and c.376C > G,p.(Arg126Gly) respectively). Electroretinography results were consistent with rod-cone dystrophy in the affected individuals. All affected individuals in the family exhibited the characteristic retinopathy as well as end-stage nephropathy, without evidence of any neurological involvement.ConclusionsWe identified two novel compound heterozygous variants of the COQ2 gene that result in primary coenzyme Q deficiency. Targeted sequencing of coenzyme Q biosynthetic pathway genes may be useful in diagnosing oculorenal clinical presentations syndromes not explained by more well known syndromes (e.g., Senior-Loken and Bardet-Biedl syndromes).

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