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Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

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Title: Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
Authors: Pourahmadiyan, Azam (AUTHOR), Alipour, Paria (AUTHOR), Golchin, Neda (AUTHOR), Tabatabaiefar, Mohammad Amin (AUTHOR)
Source: International Journal of Neuroscience. Jun2022, Vol. 132 Issue 6, p558-562. 5p.
Subjects: Nucleotide sequencing, Genetic variation, Ataxia telangiectasia, Genetic testing, Genetic counseling, Recessive genes, Molecular diagnosis
Geographic Terms: Iran
Abstract: Ataxia telangiectasia (A-T) is a rare autosomal recessive, multisystemic disease. Patients with the A-T syndrome present a broad spectrum of disease phenotypes. The ATM (ataxia telangiectasia mutated) gene, the only causative gene for A-T. A patient of Persian origin presenting with typical A-T was referred to our genetics centre for specialized genetic counselling and testing. Targeted next-generation sequencing (NGS) was applied. Sanger sequencing was used to confirm the candidate variant. Modelling was performed using the SWISS-MODEL server. A homozygous stop-gain variant c.829G > T (p.E277*) was found in the ATM gene. This variant was confirmed by Sanger sequencing and modelling of native structure, and truncated structure was performed. To date, very few pathogenic variants of the ATM gene have been reported from the Iranian population. The finding has implications in molecular diagnostic for A-T in Iran. [ABSTRACT FROM AUTHOR]
Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Label: Title
  Group: Ti
  Data: Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
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  Data: <searchLink fieldCode="AR" term="%22Pourahmadiyan%2C+Azam%22">Pourahmadiyan, Azam</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alipour%2C+Paria%22">Alipour, Paria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Golchin%2C+Neda%22">Golchin, Neda</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tabatabaiefar%2C+Mohammad+Amin%22">Tabatabaiefar, Mohammad Amin</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Neuroscience%22">International Journal of Neuroscience</searchLink>. Jun2022, Vol. 132 Issue 6, p558-562. 5p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Nucleotide+sequencing%22">Nucleotide sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Ataxia+telangiectasia%22">Ataxia telangiectasia</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+counseling%22">Genetic counseling</searchLink><br /><searchLink fieldCode="DE" term="%22Recessive+genes%22">Recessive genes</searchLink><br /><searchLink fieldCode="DE" term="%22Molecular+diagnosis%22">Molecular diagnosis</searchLink>
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  Label: Geographic Terms
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  Data: <searchLink fieldCode="DE" term="%22Iran%22">Iran</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Ataxia telangiectasia (A-T) is a rare autosomal recessive, multisystemic disease. Patients with the A-T syndrome present a broad spectrum of disease phenotypes. The ATM (ataxia telangiectasia mutated) gene, the only causative gene for A-T. A patient of Persian origin presenting with typical A-T was referred to our genetics centre for specialized genetic counselling and testing. Targeted next-generation sequencing (NGS) was applied. Sanger sequencing was used to confirm the candidate variant. Modelling was performed using the SWISS-MODEL server. A homozygous stop-gain variant c.829G > T (p.E277*) was found in the ATM gene. This variant was confirmed by Sanger sequencing and modelling of native structure, and truncated structure was performed. To date, very few pathogenic variants of the ATM gene have been reported from the Iranian population. The finding has implications in molecular diagnostic for A-T in Iran. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of International Journal of Neuroscience is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/00207454.2020.1826944
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      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: 558
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      – SubjectFull: Nucleotide sequencing
        Type: general
      – SubjectFull: Genetic variation
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      – SubjectFull: Ataxia telangiectasia
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      – SubjectFull: Genetic testing
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      – SubjectFull: Genetic counseling
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      – SubjectFull: Recessive genes
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      – SubjectFull: Molecular diagnosis
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      – SubjectFull: Iran
        Type: general
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      – TitleFull: Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
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            NameFull: Pourahmadiyan, Azam
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            NameFull: Alipour, Paria
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            NameFull: Golchin, Neda
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            NameFull: Tabatabaiefar, Mohammad Amin
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            – D: 01
              M: 06
              Text: Jun2022
              Type: published
              Y: 2022
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