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

Case Reports

. 2021 Jul 4;S0960-8966(21)00176-0.

doi: 10.1016/j.nmd.2021.06.014.

Online ahead of print.


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Case Reports

Le Guo et al.

Neuromuscul Disord.



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.


C1QBP gene; Multiple mtDNA deletions; Progressive external ophthalmoplegia; Whole exome sequencing.

Conflict of interest statement

Declaration of Competing Interest The authors declare no conflict of interest.

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