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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
npj Genomic Medicine ( IF 4.7 ) Pub Date : 2019-08-05 , DOI: 10.1038/s41525-019-0091-x
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

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.

更新日期:2019-08-05
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