Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.
Clin Chim Acta
; 497: 88-94, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-31325447
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. CASE Three unrelated cases presenting as either encephalopathy or cardiomyopathy have been diagnosed to harbor a common pathogenic variant c.370Gâ¯>â¯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.CONCLUSIONS:
Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370Gâ¯>â¯A variant as a part of the screening process for mitochondriopathy in Chinese populations.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Ataxia
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Ubiquinona
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Debilidade Muscular
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Doenças Mitocondriais
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Sequenciamento do Exoma
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Mitocôndrias
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article