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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-05-21

AUTHORS

Ahmad Reza Salehi Chaleshtori, Noriko Miyake, Mohammad Ahmadvand, Oranous Bashti, Naomichi Matsumoto, Mehrdad Noruzinia

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. More... »

PAGES

7

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0007-9

DOI

http://dx.doi.org/10.1038/s41439-018-0007-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104089166

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29796286


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