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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
- Source :
- NPJ Genomic Medicine, NPJ Genomic Medicine, 4, npj Genomic Medicine, Vol 4, Iss 1, Pp 1-11 (2019)
- Publication Year :
- 2019
- Publisher :
- Nature Publishing Group UK, 2019.
-
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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 20567944
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- NPJ Genomic Medicine
- Accession number :
- edsair.doi.dedup.....c3972ab1611d4ed9cd9539aec7e4d36f