A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability

A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability Publisher

Salehi Chaleshtori AR¹ ; Miyake N² ; Ahmadvand M³ ; Bashti O⁴ ; Matsumoto N² ; Noruzinia M¹

Source: Human Genome Variation Published:2018

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. © 2018 The Author(s).

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Style	Citing Format
MLA	Salehi Chaleshtori AR, et al.. "A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability." Human Genome Variation, vol. 5, no. 1, 2018, pp. -.
APA	Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M (2018). A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability. Human Genome Variation, 5(1), -.
Chicago	Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M. "A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability." Human Genome Variation 5, no. 1 (2018): -.
Harvard	Salehi Chaleshtori AR et al. (2018) 'A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability', Human Genome Variation, 5(1), pp. -.
Vancouver	Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M. A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability. Human Genome Variation. 2018;5(1):-.
BibTex	@article{ author = {Salehi Chaleshtori AR and Miyake N and Ahmadvand M and Bashti O and Matsumoto N and Noruzinia M}, title = {A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability}, journal = {Human Genome Variation}, volume = {5}, number = {1}, pages = {-}, year = {2018} }
RIS	TY - JOUR AU - Salehi Chaleshtori AR AU - Miyake N AU - Ahmadvand M AU - Bashti O AU - Matsumoto N AU - Noruzinia M TI - A Novel 8-Bp Duplication in Adat3 Causes Mild Intellectual Disability JO - Human Genome Variation VL - 5 IS - 1 SP - EP - PY - 2018 ER -

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