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Article: Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

TitlePrimary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Authors
YU, MHCTSANG, MHYLai, SHo, MSPTse, DMLWillis, BKwong, AKYChou, YYLin, SPQuinzii, CMHwu, WLChien, YHKuo, PLChan, VCMTsoi, CChong, SCRodenburg, RJTSmetinik, JMak, CCYYeung, KSFung, LFLam, WHui, JLee, NCFung, CWChung, BHY
Issue Date2019
PublisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/
Citation
npj Genomic Medicine, 2019, v. 4, p. article no. 18 How to Cite?
DOI: http://dx.doi.org/10.1038/s41525-019-0091-x
AbstractPrimary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others have infantile onset with more heterogeneous clinical presentations. We also identify a founder mutation COQ4 (NM_016035.5): c.370G>A, p.(Gly124Ser) for COQ10D7, suggesting a higher chance of occurrence in the southern Chinese. This study helps improve understanding of the clinical spectrum of this disorder.
Persistent Identifierhttp://hdl.handle.net/10722/274407
ISSN
2056-7944
2023 Impact Factor: 4.7
2023 SCImago Journal Rankings: 2.105
PubMed Central ID
PMC6683205
ISI Accession Number ID
WOS:000479251200001

 

DC FieldValueLanguage
dc.contributor.authorYU, MHC-
dc.contributor.authorTSANG, MHY-
dc.contributor.authorLai, S-
dc.contributor.authorHo, MSP-
dc.contributor.authorTse, DML-
dc.contributor.authorWillis, B-
dc.contributor.authorKwong, AKY-
dc.contributor.authorChou, YY-
dc.contributor.authorLin, SP-
dc.contributor.authorQuinzii, CM-
dc.contributor.authorHwu, WL-
dc.contributor.authorChien, YH-
dc.contributor.authorKuo, PL-
dc.contributor.authorChan, VCM-
dc.contributor.authorTsoi, C-
dc.contributor.authorChong, SC-
dc.contributor.authorRodenburg, RJT-
dc.contributor.authorSmetinik, J-
dc.contributor.authorMak, CCY-
dc.contributor.authorYeung, KS-
dc.contributor.authorFung, LF-
dc.contributor.authorLam, W-
dc.contributor.authorHui, J-
dc.contributor.authorLee, NC-
dc.contributor.authorFung, CW-
dc.contributor.authorChung, BHY-
dc.date.accessioned2019-08-18T15:01:08Z-
dc.date.available2019-08-18T15:01:08Z-
dc.date.issued2019-
dc.identifier.citationnpj Genomic Medicine, 2019, v. 4, p. article no. 18-
dc.identifier.issn2056-7944-
dc.identifier.urihttp://hdl.handle.net/10722/274407-
dc.description.abstractPrimary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others have infantile onset with more heterogeneous clinical presentations. We also identify a founder mutation COQ4 (NM_016035.5): c.370G>A, p.(Gly124Ser) for COQ10D7, suggesting a higher chance of occurrence in the southern Chinese. This study helps improve understanding of the clinical spectrum of this disorder.-
dc.languageeng-
dc.publisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/-
dc.relation.ispartofnpj Genomic Medicine-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titlePrimary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese-
dc.typeArticle-
dc.identifier.emailHo, MSP: mspho@HKUCC-COM.hku.hk-
dc.identifier.emailKwong, AKY: kkyanna@hku.hk-
dc.identifier.emailMak, CCY: cmakl@HKUCC-COM.hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@HKUCC-COM.hku.hk-
dc.identifier.emailFung, LF: jasflfs@HKUCC-COM.hku.hk-
dc.identifier.emailFung, CW: fcw1209m@hkucc.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityHo, MSP=rp02049-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/s41525-019-0091-x-
dc.identifier.pmid31396399-
dc.identifier.pmcidPMC6683205-
dc.identifier.scopuseid_2-s2.0-85070237552-
dc.identifier.hkuros301769-
dc.identifier.volume4-
dc.identifier.spagearticle no. 18-
dc.identifier.epagearticle no. 18-
dc.identifier.isiWOS:000479251200001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl2056-7944-

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