Expansion of the phenotype of biallelic variants in TRIT1

Forde, Karina; Molloy, Ben; Conroy, Judith; Green, Andrew J.; King, Mary D.; Buckley, Patrick G.; Ryan, Stephanie; Gorman, Kathleen

doi:10.1016/j.ejmg.2020.103882

Cited by 4 publications

(4 citation statements)

References 10 publications

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“…Including our two novel patients (see Supporting Information), 15 patients have been described in the medical literature so far (five males, eight females, for two patients, the gender was not reported 1,[3][4][5][6][7][8][9] ). Age of symptom onset was between 3 and 14 months, and one patient had symptom onset antenatally (for four patients, age of symptom onset was not reported).…”

Section: Clinical Review Of Reported Patientsmentioning

confidence: 99%

“…The transfer of an isopentenyl group from dimethylallyl pyrophosphate to N6 of adenine at position 37 of the tRNA is catalyzed by this enzyme. 1 , 2 This post‐transcriptional modification of tRNAs is essential for folding, stability and maintaining the correct reading frame during protein translation. 2 , 3 Moreover, the activity of the tRNA toward its codon increases four times due to this modification.…”

Section: Introductionmentioning

confidence: 99%

“…The TRIT1 gene, located on chromosome 1p34, encodes for a tRNA isopentenyl transferase (ITPase). The transfer of an isopentenyl group from dimethylallyl pyrophosphate to N6 of adenine at position 37 of the tRNA is catalyzed by this enzyme 1,2 . This post‐transcriptional modification of tRNAs is essential for folding, stability and maintaining the correct reading frame during protein translation 2,3 .…”

Section: Introductionmentioning

confidence: 99%

“…Truncating TRIT1 variants have been associated with a different, more severe phenotype, including intrauterine growth retardation, neonatal microcephaly, polymicrogyria, sensorineural hearing loss, and visual loss 1 . The link between these neurodevelopmental symptoms and the abnormal modification of the tRNA is not yet well understood.…”

Section: Introductionmentioning

confidence: 99%

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TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

Muylle

Jiang

Johnsen

et al. 2022

J of Inher Metab Disea

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TRIT1 defect is a rare, autosomal-recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical, and metabolic aspects of the disease in all known patients, including two novel, unrelated TRIT1 cases with abnormalities in oxidative phosphorylation complexes I and IV in fibroblasts. Taken together the features of all 15 patients, TRIT1 defect could be identified as a potentially recognizable syndrome including myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and variable microcephaly, with normal lactate levels. Half of the patients had oxidative phosphorylation complex measurements and had multiple complex abnormalities.

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