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Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ 10 deficiency: An underdiagnosed cause of mitochondriopathy.
- Source :
-
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2019 Oct; Vol. 497, pp. 88-94. Date of Electronic Publication: 2019 Jul 17. - Publication Year :
- 2019
-
Abstract
- Background: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and signs, posing a diagnostic challenge. Whole-exome sequencing is vital in the diagnosis of these cases.<br />Case: Three unrelated cases presenting as either encephalopathy or cardiomyopathy have been diagnosed to harbor a common pathogenic variant c.370G > A in COQ4. COQ4 encodes a key structural component for stabilizing the multienzymatic CoQ biosynthesis complex. This variant is detected only among East and South Asian populations.<br />Conclusions: Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370G > A variant as a part of the screening process for mitochondriopathy in Chinese populations.<br /> (Copyright © 2019 Elsevier B.V. All rights reserved.)
- Subjects :
- Ataxia metabolism
Ataxia pathology
Female
Genetic Variation genetics
Humans
Infant
Infant, Newborn
Male
Mitochondria metabolism
Mitochondrial Diseases metabolism
Mitochondrial Diseases pathology
Muscle Weakness metabolism
Muscle Weakness pathology
Mutation
Ubiquinone genetics
Ubiquinone metabolism
Ataxia diagnosis
Ataxia genetics
Mitochondria genetics
Mitochondria pathology
Mitochondrial Diseases diagnosis
Mitochondrial Diseases genetics
Muscle Weakness diagnosis
Muscle Weakness genetics
Ubiquinone deficiency
Exome Sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 1873-3492
- Volume :
- 497
- Database :
- MEDLINE
- Journal :
- Clinica chimica acta; international journal of clinical chemistry
- Publication Type :
- Academic Journal
- Accession number :
- 31325447
- Full Text :
- https://doi.org/10.1016/j.cca.2019.07.016