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Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy.

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Title: Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy.
Authors: Konecki, Céline (AUTHOR), Francou, Bruno (AUTHOR), Chappell, Kenneth (AUTHOR), Augey, Lucie (AUTHOR), Beaudonnet, Guillemette (AUTHOR), Cauquil, Cécile (AUTHOR), Dimitri‐Boulos, Dalia (AUTHOR), Not, Adeline (AUTHOR), Adam, Clovis (AUTHOR), Poinsignon, Vianney (AUTHOR), Verstuyft, Céline (AUTHOR), Adams, David (AUTHOR), Echaniz‐Laguna, Andoni (AUTHOR), Labeyrie, Céline (AUTHOR)
Source: European Journal of Neurology. Dec2024, Vol. 31 Issue 12, p1-5. 5p.
Subjects: Genetic variation, Databases, Idiopathic diseases, Dysautonomia, Transthyretin
Abstract: Background and Purpose: Small‐fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337‐18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group. Methods: In this retrospective single‐center study, we analyzed the frequency of the c.76G>A and c.337‐18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database. Results: We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337‐18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database. Conclusions: The c.76G>A and c.337‐18G>C TTR gene variants are not associated with SFN. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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.)
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  Label: Title
  Group: Ti
  Data: Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy.
– Name: Author
  Label: Authors
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  Data: <searchLink fieldCode="AR" term="%22Konecki%2C+Céline%22">Konecki, Céline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Francou%2C+Bruno%22">Francou, Bruno</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chappell%2C+Kenneth%22">Chappell, Kenneth</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Augey%2C+Lucie%22">Augey, Lucie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beaudonnet%2C+Guillemette%22">Beaudonnet, Guillemette</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cauquil%2C+Cécile%22">Cauquil, Cécile</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dimitri‐Boulos%2C+Dalia%22">Dimitri‐Boulos, Dalia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Not%2C+Adeline%22">Not, Adeline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Adam%2C+Clovis%22">Adam, Clovis</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Poinsignon%2C+Vianney%22">Poinsignon, Vianney</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Verstuyft%2C+Céline%22">Verstuyft, Céline</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Adams%2C+David%22">Adams, David</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Echaniz‐Laguna%2C+Andoni%22">Echaniz‐Laguna, Andoni</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Labeyrie%2C+Céline%22">Labeyrie, Céline</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Dec2024, Vol. 31 Issue 12, p1-5. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Databases%22">Databases</searchLink><br /><searchLink fieldCode="DE" term="%22Idiopathic+diseases%22">Idiopathic diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Dysautonomia%22">Dysautonomia</searchLink><br /><searchLink fieldCode="DE" term="%22Transthyretin%22">Transthyretin</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and Purpose: Small‐fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337‐18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group. Methods: In this retrospective single‐center study, we analyzed the frequency of the c.76G>A and c.337‐18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database. Results: We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337‐18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database. Conclusions: The c.76G>A and c.337‐18G>C TTR gene variants are not associated with SFN. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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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        Value: 10.1111/ene.16461
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        Text: English
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      – SubjectFull: Genetic variation
        Type: general
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      – SubjectFull: Idiopathic diseases
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      – SubjectFull: Dysautonomia
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      – SubjectFull: Transthyretin
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              Text: Dec2024
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