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

Mullin Ho Chung Yu; Mandy Ho Yin Tsang; Sophie Lai; Matthew Sai Pong Ho; Donald M.L. Tse; Brooke Willis; Anna Ka Yee Kwong; Yen Yin Chou; Shuan Pei Lin; Catarina M. Quinzii; Wuh Liang Hwu; Yin Hsiu Chien; Pao Lin Kuo; Victor Chi Man Chan; Cheung Tsoi; Shuk Ching Chong; Richard J.T. Rodenburg; Jan Smeitink; Christopher Chun Yu Mak; Kit San Yeung; Jasmine Lee Fong Fung; Wendy Lam; Joannie Hui; Ni Chung Lee; Cheuk Wing Fung; Brian Hon Yin Chung

doi:10.1038/s41525-019-0091-x

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

Mullin Ho Chung Yu, Mandy Ho Yin Tsang, Sophie Lai, Matthew Sai Pong Ho, Donald M.L. Tse, Brooke Willis, Anna Ka Yee Kwong, Yen Yin Chou, Shuan Pei Lin, Catarina M. Quinzii, Wuh Liang Hwu, Yin Hsiu Chien, Pao Lin Kuo, Victor Chi Man Chan, Cheung Tsoi, Shuk Ching Chong, Richard J.T. Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit San YeungJasmine Lee Fong Fung, Wendy Lam, Joannie Hui, Ni Chung Lee, Cheuk Wing Fung, Brian Hon Yin Chung

研究成果: Article › 同行評審

30 引文斯高帕斯（Scopus）

摘要

Primary 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.

原文	English
文章編號	18
期刊	npj Genomic Medicine
卷	4
發行號	1
DOIs	https://doi.org/10.1038/s41525-019-0091-x
出版狀態	Published - 2019 12月 1

All Science Journal Classification (ASJC) codes

分子生物學
遺傳學
遺傳學（臨床）

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Yu, M. H. C., Tsang, M. H. Y., Lai, S., Ho, M. S. P., Tse, D. M. L., Willis, B., Kwong, A. K. Y., Chou, Y. Y., Lin, S. P., Quinzii, C. M., Hwu, W. L., Chien, Y. H., Kuo, P. L., Chan, V. C. M., Tsoi, C., Chong, S. C., Rodenburg, R. J. T., Smeitink, J., Mak, C. C. Y., ... Chung, B. H. Y. (2019). Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. npj Genomic Medicine, 4(1), 文章 18. https://doi.org/10.1038/s41525-019-0091-x

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title = "Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese",

abstract = "Primary 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.",

author = "Yu, {Mullin Ho Chung} and Tsang, {Mandy Ho Yin} and Sophie Lai and Ho, {Matthew Sai Pong} and Tse, {Donald M.L.} and Brooke Willis and Kwong, {Anna Ka Yee} and Chou, {Yen Yin} and Lin, {Shuan Pei} and Quinzii, {Catarina M.} and Hwu, {Wuh Liang} and Chien, {Yin Hsiu} and Kuo, {Pao Lin} and Chan, {Victor Chi Man} and Cheung Tsoi and Chong, {Shuk Ching} and Rodenburg, {Richard J.T.} and Jan Smeitink and Mak, {Christopher Chun Yu} and Yeung, {Kit San} and Fung, {Jasmine Lee Fong} and Wendy Lam and Joannie Hui and Lee, {Ni Chung} and Fung, {Cheuk Wing} and Chung, {Brian Hon Yin}",

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year = "2019",

month = dec,

day = "1",

doi = "10.1038/s41525-019-0091-x",

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Yu, MHC, Tsang, MHY, Lai, S, Ho, MSP, Tse, DML, Willis, B, Kwong, AKY, Chou, YY, Lin, SP, Quinzii, CM, Hwu, WL, Chien, YH, Kuo, PL, Chan, VCM, Tsoi, C, Chong, SC, Rodenburg, RJT, Smeitink, J, Mak, CCY, Yeung, KS, Fung, JLF, Lam, W, Hui, J, Lee, NC, Fung, CW & Chung, BHY 2019, 'Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese', npj Genomic Medicine, 卷 4, 編號 1, 18. https://doi.org/10.1038/s41525-019-0091-x

TY - JOUR

T1 - Primary coenzyme Q10 deficiency-7

T2 - expanded phenotypic spectrum and a founder mutation in southern Chinese

AU - Yu, Mullin Ho Chung

AU - Tsang, Mandy Ho Yin

AU - Lai, Sophie

AU - Ho, Matthew Sai Pong

AU - Tse, Donald M.L.

AU - Willis, Brooke

AU - Kwong, Anna Ka Yee

AU - Chou, Yen Yin

AU - Lin, Shuan Pei

AU - Quinzii, Catarina M.

AU - Hwu, Wuh Liang

AU - Chien, Yin Hsiu

AU - Kuo, Pao Lin

AU - Chan, Victor Chi Man

AU - Tsoi, Cheung

AU - Chong, Shuk Ching

AU - Rodenburg, Richard J.T.

AU - Smeitink, Jan

AU - Mak, Christopher Chun Yu

AU - Yeung, Kit San

AU - Fung, Jasmine Lee Fong

AU - Lam, Wendy

AU - Hui, Joannie

AU - Lee, Ni Chung

AU - Fung, Cheuk Wing

AU - Chung, Brian Hon Yin

PY - 2019/12/1

Y1 - 2019/12/1

N2 - Primary 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.

AB - Primary 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.

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SN - 2056-7944

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JO - npj Genomic Medicine

JF - npj Genomic Medicine

IS - 1

M1 - 18

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

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