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Article

TRIT1 deficiency: Two novel patients with four novel variants.

European journal of medical genetics - 1 Nov 2022

Smol Thomas, Brunelle Perrine, Caumes Roseline, Boute-Benejean Odile, Thuillier Caroline, Figeac Martin, Ait-Yahya Emilie, Bonte Fabrice, Mau-Them Frederic Tran, Thauvin-Robinet Christel, Faivre Laurence, Roche-Lestienne Catherine, Manouvrier-Hanu Sylvie, Petit Florence, Ghoumid Jamal

Abstract excerpt

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...

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PMID: 36049610
DOI: 10.1016/j.ejmg.2022.104603

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