1. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
- Author
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Sophie Hon Yu Lai, Brian H.Y. Chung, Wuh-Liang Hwu, Wendy W.M. Lam, Shuk Ching Chong, Anna Ka Yee Kwong, Yen Yin Chou, Catarina M. Quinzii, Mandy H.Y. Tsang, Kit San Yeung, Jan A.M. Smeitink, Joannie Hui, Mullin H.C. Yu, Christopher C.Y. Mak, Jasmine L.F. Fung, Richard J. Rodenburg, Cheung Tsoi, Ni-Chung Lee, Pao Lin Kuo, Victor Chi Man Chan, Cheuk Wing Fung, Donald M.L. Tse, Shuan-Pei Lin, Brooke R. Willis, Matthew Ho, and Yin-Hsiu Chien
- Subjects
0301 basic medicine ,lcsh:QH426-470 ,Mitochondrial disease ,lcsh:Medicine ,Case Report ,Diseases ,Biology ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,All institutes and research themes of the Radboud University Medical Center ,Genetics ,medicine ,Molecular Biology ,Founder mutation ,Genetics (clinical) ,Coenzyme Q10 ,Disease genetics ,lcsh:R ,Southern chinese ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,medicine.disease ,Phenotype ,lcsh:Genetics ,030104 developmental biology ,chemistry ,030220 oncology & carcinogenesis ,Cohort ,Infantile onset ,Coenzyme Q10 deficiency - 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.
- Published
- 2019