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

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 ADAT...

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Autores principales: Salehi Chaleshtori, Ahmad Reza, Miyake, Noriko, Ahmadvand, Mohammad, Bashti, Oranous, Matsumoto, Naomichi, Noruzinia, Mehrdad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960644/
https://www.ncbi.nlm.nih.gov/pubmed/29796286
http://dx.doi.org/10.1038/s41439-018-0007-9
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author Salehi Chaleshtori, Ahmad Reza
Miyake, Noriko
Ahmadvand, Mohammad
Bashti, Oranous
Matsumoto, Naomichi
Noruzinia, Mehrdad
author_facet Salehi Chaleshtori, Ahmad Reza
Miyake, Noriko
Ahmadvand, Mohammad
Bashti, Oranous
Matsumoto, Naomichi
Noruzinia, Mehrdad
author_sort Salehi Chaleshtori, Ahmad Reza
collection PubMed
description 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.
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spelling pubmed-59606442018-05-24 A novel 8-bp duplication in ADAT3 causes mild intellectual disability Salehi Chaleshtori, Ahmad Reza Miyake, Noriko Ahmadvand, Mohammad Bashti, Oranous Matsumoto, Naomichi Noruzinia, Mehrdad Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-05-21 /pmc/articles/PMC5960644/ /pubmed/29796286 http://dx.doi.org/10.1038/s41439-018-0007-9 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Salehi Chaleshtori, Ahmad Reza
Miyake, Noriko
Ahmadvand, Mohammad
Bashti, Oranous
Matsumoto, Naomichi
Noruzinia, Mehrdad
A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title_full A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title_fullStr A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title_full_unstemmed A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title_short A novel 8-bp duplication in ADAT3 causes mild intellectual disability
title_sort novel 8-bp duplication in adat3 causes mild intellectual disability
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960644/
https://www.ncbi.nlm.nih.gov/pubmed/29796286
http://dx.doi.org/10.1038/s41439-018-0007-9
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