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

ABSTRACT: 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.

SUBMITTER: Salehi Chaleshtori AR 

PROVIDER: S-EPMC5960644 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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A novel 8-bp duplication in <i>ADAT3</i> causes mild intellectual disability.

Salehi Chaleshtori Ahmad Reza AR   Miyake Noriko N   Ahmadvand Mohammad M   Bashti Oranous O   Matsumoto Naomichi N   Noruzinia Mehrdad M  

Human genome variation 20180521

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 <i>ADAT3</i> mutation in a patient with microcephaly, intellectual disability, and hyperactivity. These findings constitute a second mutation and expand the clinical spectrum of extremely rare <i>ADAT3</i  ...[more]

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