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

Autor: Guo L; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands., Govindaraj P; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Center for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India., Kievit M; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands., de Coo IFM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands., Gerards M; Maastricht Center for Systems Biology (MacsBio), Maastricht University, Maastricht, the Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stassen APM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Taly AB; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Sankaran BP; The Faculty of Medicine and Health, The Children's Hospital at Westmead Clinical School, Sydney Medical School, The University of Sydney, NSW, Australia., Smeets HJM; School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Clinical Genomics Unit, Maastricht University, Maastricht, the Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands. Electronic address: bert.smeets@maastrichtuniversity.nl.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Sep; Vol. 31 (9), pp. 859-864. Date of Electronic Publication: 2021 Jul 04.
DOI: 10.1016/j.nmd.2021.06.014
Abstrakt: 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.
Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest.
(Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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