Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
COX4I1
Leigh syndrome
cytochrome c oxidase
mitochondrial disease
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
13
05
2019
revised:
21
06
2019
accepted:
23
06
2019
pubmed:
11
7
2019
medline:
4
8
2020
entrez:
11
7
2019
Statut:
ppublish
Résumé
Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia. COX4I1 encodes subunit 4, isoform 1 of cytochrome c oxidase. Cytochrome c oxidase is a respiratory chain enzyme that plays an important role in mitochondrial electron transport and reduces molecular oxygen to water leading to the formation of ATP. Defective production of cytochrome c oxidase leads to a variable phenotypic spectrum ranging from isolated myopathy to Leigh syndrome. Here, we describe two siblings, born to consanguineous parents, who presented with encephalopathy, developmental regression, hypotonia, pathognomonic brain imaging findings resembling Leigh-syndrome, and a novel homozygous variant on COX4I1, expanding the known clinical phenotype associated with pathogenic variants in COX4I1.
Identifiants
pubmed: 31290619
doi: 10.1002/ajmg.a.61288
doi:
Substances chimiques
COX4I1 protein, human
EC 1.9.3.1
Electron Transport Complex IV
EC 1.9.3.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2138-2143Informations de copyright
© 2019 Wiley Periodicals, Inc.
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