Chunk #30 — Results — A DALRD3 variant linked to a developmental brain disorder

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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.

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reduction of m3C modification in tRNA-Arg-CCU and UCU of both D3-LCLs from affected patients (Fig. 7c, d). In contrast, the levels of m3C modification detected by PHA probe hybridization or primer extension for tRNA-Ser-UGA and tRNA-Thr-AGU was similar between D3- and WT control-LCLs (Fig. 7b–d). The deficit in m3C modification in the arginine tRNAs of both patient LCLs demonstrates that the DALRD3 mutation represents a partial loss-of-function allele.