TRIT1 deficiency: Two novel patients with four novel variants.
Combined oxidative phosphorylation deficiency
Exome
Genome
Mitochondrial disorders
TRIT1
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
25
04
2022
revised:
30
06
2022
accepted:
25
08
2022
pubmed:
2
9
2022
medline:
20
10
2022
entrez:
1
9
2022
Statut:
ppublish
Résumé
TRIT1 encodes a tRNA isopentenyl transferase that allows a strong interaction between the mini helix and the codon. Recent reports support the TRIT1 bi-allelic alterations as the cause of an autosomal recessive disorder, named combined oxydative phophorylation deficiency 35, with microcephaly, developmental disability, and epilepsy. The phenotype is due to decreased mitochondrial function, with deficit of i6A37 in cytosolic and mitochondrial tRNA. Only 10 patients have been reported. We report on two new patients with four novel variants, and confirm the published clinical TRIT1 deficient phenotype stressing the possibility of both very severe, with generalized pharmaco-resistant seizures, and mild phenotypes.
Identifiants
pubmed: 36049610
pii: S1769-7212(22)00184-7
doi: 10.1016/j.ejmg.2022.104603
pii:
doi:
Substances chimiques
Alkyl and Aryl Transferases
EC 2.5.-
Codon
0
RNA, Transfer
9014-25-9
TRIT1 protein, human
EC 2.5.1.75
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104603Informations de copyright
Copyright © 2022 Elsevier Masson SAS. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare no conflict of interest.