2.5.1.75 | medicine |
identification of compound heterozygous missense mutations, i.e. c.244A>G p.(Met82Val) in exon 2 in the maternally derived allele, and c.1034A>G p.(Tyr345Cys) in exon 9 in the paternally derived allele, in Trit1 in a girl with a developmental delay, frequent episodes of seizures induced by febrile illness, and myoclonic epilepsy. In peripheral blood and urine, a marked decrease in both i6A and ms2i6A modifications is observed. The mitochondrial disorder is caused by defective tRNA isopentenylation arising from a loss-of-function mutation in Trit1 |
758624 |