Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
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SUBMITTER: Yu MH
PROVIDER: S-EPMC6683205 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu Mullin Ho-Chung MH Tsang Mandy Ho-Yin MH Lai Sophie S Ho Matthew Sai-Pong MS Tse Donald M L DML Willis Brooke B Kwong Anna Ka-Yee AK Chou Yen-Yin YY Lin Shuan-Pei SP Quinzii Catarina M CM Hwu Wuh-Liang WL Chien Yin-Hsiu YH Kuo Pao-Lin PL Chan Victor Chi-Man VC Tsoi Cheung C Chong Shuk-Ching SC Rodenburg Richard J T RJT Smeitink Jan J Mak Christopher Chun-Yu CC Yeung Kit-San KS Fung Jasmine Lee-Fong JL Lam Wendy W Hui Joannie J Lee Ni-Chung NC Fung Cheuk-Wing CW Chung Brian Hon-Yin BH
NPJ genomic medicine 20190805
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in <i>COQ4</i>. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic <i>COQ4</i> 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 <i>COQ4</i> (NM_016035.5): c.370G>A, p.(Gly124S ...[more]
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