TRIT1 deficiency: Two novel patients with four novel variants.
Fiche publication
Date publication
août 2022
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J
Lien Pubmed
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.
Mots clés
Combined oxidative phosphorylation deficiency, Exome, Genome, Mitochondrial disorders, TRIT1
Référence
Eur J Med Genet. 2022 08 29;:104603