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

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
4
發行號1
DOIs
出版狀態Published - 2019 十二月 1

    指紋

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

引用此

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), [18]. https://doi.org/10.1038/s41525-019-0091-x