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Article: Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

TitleClinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
Authors
KeywordsCOQ4
Clinical whole-exome sequencing
Mitochondriopathy
Common mutation
Issue Date2019
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2019, v. 497, p. 88-94 How to Cite?
AbstractBackground 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.
Persistent Identifierhttp://hdl.handle.net/10722/273012
ISSN
2019 Impact Factor: 2.615
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLing, TK-
dc.contributor.authorLAW, CY-
dc.contributor.authorYAN, KW-
dc.contributor.authorFONG, NC-
dc.contributor.authorWong, KC-
dc.contributor.authorLEE, KL-
dc.contributor.authorCHU, WCW-
dc.contributor.authorBrea-Calvo, G-
dc.contributor.authorLam, CW-
dc.date.accessioned2019-08-06T09:20:53Z-
dc.date.available2019-08-06T09:20:53Z-
dc.date.issued2019-
dc.identifier.citationClinica Chimica Acta, 2019, v. 497, p. 88-94-
dc.identifier.issn0009-8981-
dc.identifier.urihttp://hdl.handle.net/10722/273012-
dc.description.abstractBackground 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.-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectCOQ4-
dc.subjectClinical whole-exome sequencing-
dc.subjectMitochondriopathy-
dc.subjectCommon mutation-
dc.titleClinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy-
dc.typeArticle-
dc.identifier.emailWong, KC: wkc872@hku.hk-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2019.07.016-
dc.identifier.scopuseid_2-s2.0-85069711308-
dc.identifier.hkuros300403-
dc.identifier.volume497-
dc.identifier.spage88-
dc.identifier.epage94-
dc.identifier.isiWOS:000484878100014-
dc.publisher.placeNetherlands-
dc.identifier.issnl0009-8981-

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