| Title: |
Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy |
| Authors: |
Konecki, Céline; Francou, Bruno; Chappell, Kenneth; Augey, Lucie; Beaudonnet, Guillemette; Cauquil, Cécile; Dimitri‐Boulos, Dalia; Not, Adeline; Adam, Clovis; Poinsignon, Vianney; Verstuyft, Céline; Adams, David; Echaniz‐Laguna, Andoni; Labeyrie, Céline |
| Source: |
European Journal of Neurology ; volume 31, issue 12 ; ISSN 1351-5101 1468-1331 |
| Publisher Information: |
Wiley |
| Publication Year: |
2024 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1111/ene.16461 |
| Availability: |
https://doi.org/10.1111/ene.16461; https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.16461 |
| Rights: |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.398AC540 |
| Database: |
BASE |