Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
early diagnosis
epilepsy
nervous system diseases
pediatrics
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
22
01
2021
accepted:
26
09
2021
pubmed:
18
10
2021
medline:
24
8
2022
entrez:
17
10
2021
Statut:
ppublish
Résumé
Human coenzyme Q4 (COQ4) is essential for coenzyme Q Clinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed. We characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in Our study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of
Sections du résumé
BACKGROUND
Human coenzyme Q4 (COQ4) is essential for coenzyme Q
METHODS
Clinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed.
RESULTS
We characterised 44 individuals from 36 families with COQ4 deficiency (16 newly described). A total of 23 different variants were identified, including four novel variants in
CONCLUSION
Our study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of
Identifiants
pubmed: 34656997
pii: jmedgenet-2021-107729
doi: 10.1136/jmedgenet-2021-107729
pmc: PMC9807242
mid: NIHMS1854312
doi:
Substances chimiques
COQ4 protein, human
0
Mitochondrial Proteins
0
Ubiquinone
1339-63-5
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
878-887Subventions
Organisme : NINDS NIH HHS
ID : R01 NS083726
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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