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

Show Affiliations

1. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, P.O. Box 14115-331, Tehran, Iran
2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan
3. Hematology, Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, P.O. Box 14114, Tehran, Iran
4. Laboratory of Medical Genetics, IHealth Clinics, P.O. Box 1913874416, Tehran, Iran

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).

2. Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis, Iranian Journal of Pediatric Hematology and Oncology (2020)

3. X-Linked Recessive Tlr7 Deficiency in ~1% of Men Under 60 Years Old With Life-Threatening Covid-19, Science Immunology (2021)

4. A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations, Molecular Neurobiology (2018)

5. Recessive Inborn Errors of Type I Ifn Immunity in Children With Covid-19 Pneumonia, Journal of Experimental Medicine (2022)

6. Expanding the Clinical and Neuroimaging Features of Nkx6-2-Related Hereditary Spastic Ataxia Type 8, European Journal of Medical Genetics (2020)

7. Phenotypic and Genotypic Characterization of Families With Complex Intellectual Disability Identified Pathogenic Genetic Variations in Known and Novel Disease Genes, Scientific Reports (2020)

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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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Abstract