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, Pr THAUVIN-ROBINET Christel


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

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