130342 20240731103330.0 doi 10.1186/s13104-023-06491-z sideral 136558 ART-2023-136558 eng Moreno-Gázquez, Inmaculada Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis 2023 Access copy available to the general public Unrestricted Objective: Wild-type transthyretin (ATTRwt) amyloidosis is caused by the misfolding and deposition of the transthyretin protein (TTR) in the absence of mutations in the TTR gene. Studies regarding the variant form of ATTR amyloidosis (ATTRv) suggest that the presence of single-nucleotide polymorphisms (SNP) in genes other than the TTR, may influence the development of the disease. However, other genetic factors involved in the aetiopathogenesis of ATTRwt are currently unknown. This work investigates the presence of sequence variants in genes selected for their possible impact on ATTRwt amyloidosis. To do so, targeted sequencing of 84 protein-coding genes was performed in a cohort of 27 patients diagnosed with ATTRwt. Results: After applying quality and frequency filtering criteria, 72 rare or novel genetic variants were found. Subsequent classification according to the ACMG-AMP criteria resulted in 17 variants classified as of uncertain significance in 14 different genes. To our knowledge, this is the first report associating novel gene variants with ATTRwt amyloidosis. In conclusion, this study provides potential insights into the aetiopathogenesis of ATTRwt amyloidosis by linking novel coding-gene variants with the occurrence of the disease. info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 0.486 2023 Biochemistry, Genetics and Molecular Biology (miscellaneous) 2023 Q2 Medicine (miscellaneous) 2023 Q3 3.6 2023 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Pérez-Palacios, Raquel Universidad de Zaragoza (orcid)0000-0001-8655-9267 Abengochea-Quílez, Lucia Universidad de Zaragoza Lahuerta Pueyo, Carmen Roteta Unceta Barrenechea, Ana Andrés Gracia, Alejandro Universidad de Zaragoza (orcid)0000-0003-3501-0121 Aibar Arregui, Miguel Angel (orcid)0000-0002-1774-6488 Menao Guillén, Sebastián Universidad de Zaragoza (orcid)0000-0002-1817-4549 1011 770 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Radiol. y Medicina Física 1001 025 Universidad de Zaragoza Dpto. Anatom.,Embri.Genét.Ani. Área Anatom.Anatom.Patológ.Com 5005 555 Universidad de Zaragoza Dpto. Ing.Quím.Tecnol.Med.Amb. Área Ingeniería Química 1002 807 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Toxicología 16 (2023), 249 [8 pp.] BMC Res. Notes BBMC research notes 1756-0500 1069878 http://zaguan.unizar.es/record/130342/files/texto_completo.pdf Versión publicada 2427462 http://zaguan.unizar.es/record/130342/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:130342 articulos driver 2024-07-31-09:46:11 ARTICLE