Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

L. Guo, P. Govindaraj, M. Kievit, I.F.M. de Coo, M. Gerards, D.M.E.I. Hellebrekers, A.P.M. Stassen, N. Gayathri, A.B. Taly, B.P. Sankaran, H.J.M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset. Our patient showed only late-onset PEO-plus syndrome without overt cardiac involvement. Available data suggest that early-onset cardiomyopathy variants localize in important structural domains and PEO-plus variants in the coiled-coil region. Our patient demonstrates that C1QBP mutations should be considered in individuals with PEO with or without cardiomyopathy. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )
Original languageEnglish
Pages (from-to)859-864
Number of pages6
JournalNeuromuscular Disorders
Issue number9
Publication statusPublished - 1 Sept 2021


  • Whole exome sequencing
  • C1QBP gene
  • Progressive external ophthalmoplegia
  • Multiple mtDNA deletions

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