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A fatal case of COQ7 ‐associated primary coenzyme Q 10 deficiency
Author(s) -
Kwong Anna K.Y.,
Chiu Annie T.G.,
Tsang Mandy H.Y.,
Lun KinShing,
Rodenburg Richard J. T.,
Smeitink Jan,
Chung Brian H.Y.,
Fung CheukWing
Publication year - 2019
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12032
Subject(s) - frameshift mutation , coenzyme q10 , missense mutation , lactic acidosis , compound heterozygosity , mitochondrial disease , exome sequencing , medicine , gene , genetics , mutation , biology , mitochondrial dna
Abstract Background Primary coenzyme Q 10 (CoQ 10 ) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ 10 biosynthesis pathway. COQ7 ‐associated CoQ 10 deficiency is very rare and only two cases have been reported. Methods and Results We report a patient with encephalo‐myo‐nephro‐cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death. Using whole exome sequencing, we identified compound heterozygous variants in the COQ7 gene consisting of a deletion insertion resulting in frameshift [c.599_600delinsTAATGCATC, p.(Lys200Ilefs*56)] and a missense substitution [c.319C>T, p.(Arg107Trp), NM_016138.4]. Skin fibroblast studies showed decreased combined complex II + III activity and reduction in CoQ 10 level. Conclusion This third patient presenting with lethal encephalo‐myo‐nephro‐cardiopathy represents the severe end of this ultra‐rare mitochondrial disease caused by biallelic COQ7 mutations. The response to CoQ 10 supplement is poor and alternative treatment strategies should be developed for a more effective management of this disorder.

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