Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ(10) deficiency: An underdiagnosed cause of mitochondriopathy
Publication in policy or professional journal


摘要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.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.

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.
著者Ling TK, Law CY, Yan KW, Fong NC, Wong KC, Lee KL, Chu WC, Brea-Calvo G, Lam CW
期刊名稱Clinica Chimica Acta
詳細描述Epub ahead of print
出版社Elsevier: 12 months
頁次88 - 94
關鍵詞COQ4, Clinical whole-exome sequencing, Common mutation, Mitochondriopathy

上次更新時間 2021-21-09 於 00:16