Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene

Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.

Abstract

Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient. We report two adult siblings with c.614A>G (p.Asp205Gly) homozygous missense variant in the TOP3A gene who had CPEO plus syndrome.

Publication types

  • Letter

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics
  • Homozygote
  • Humans
  • Mutation, Missense
  • Ophthalmoplegia* / genetics
  • Ophthalmoplegia, Chronic Progressive External* / genetics
  • Ophthalmoplegia, Chronic Progressive External* / pathology

Substances

  • DNA, Mitochondrial