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Inosine is a base located at wobble position 34 of the tRNA anticodon stem–loop, enabling the recognition of more than one codon in the translation process. A heterodimer consists of ADAT3 and ADAT2 and is involved in the adenosine-to-inosine conversion in tRNA. Here, we report the second novel  ADAT3  mutation in a patient with microcephaly, intellectual disability, and hyperactivity. These findings constitute a second mutation and expand the clinical spectrum of extremely rare  ADAT3  mutations.

A novel 8-bp duplication in ADAT3 causes mild intellectual disability