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Amyloid
The Journal of Protein Folding Disorders
Volume 26, 2019 - Issue sup1: Proceedings of the XVI International Symposium on Amyloidosis Kumamoto, Japan 26-29 March 2018
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Letters

Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

Isabel TavaresDepartment of Nephrology, Centro Hospitalar de São João, Porto, Portugal; ;Group of Research and Development in Nephrology and Infectious Diseases, Institute of Biomedical Engineering–I3S, University of Porto, Porto, Portugal; Correspondence[email protected]
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Márcia E. OliveiraUnit of Molecular Genetics, Centre of Medical Genetics Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal; ;Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; View further author information
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Nuno MaiaUnit of Molecular Genetics, Centre of Medical Genetics Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal; ;Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; View further author information
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Luciana MoreiraDepartment of Human Genetics, National Health Institute Dr. Ricardo Jorge, Porto, Portugal; View further author information
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Pedro Castro LacerdaDepartment of Human Genetics, National Health Institute Dr. Ricardo Jorge, Porto, Portugal; ORCID Iconhttp://orcid.org/0000-0003-0776-9149View further author information
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Josefina SantosUnit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; ;Department of Nephrology, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal; View further author information
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Rosário SantosUnit of Molecular Genetics, Centre of Medical Genetics Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal; ;Unit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; ;Department of Biological Sciences, Faculty of Pharmacy, Laboratory of Biochemistry, UCIBIO/REQUIMTE, University of Porto, Porto, Portugal; View further author information
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Paulo Pinho CostaUnit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; ;Department of Human Genetics, National Health Institute Dr. Ricardo Jorge, Porto, Portugal; View further author information
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Luísa LobatoUnit for Multidisciplinary Research in Biomedicine (UMIB), Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal; ;Department of Nephrology, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal; View further author information
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Pages 144-145 | Published online: 25 Jul 2019

References

  • Tavares I, Oliveira JP, Pinho A, et al. Unrecognized fibrinogen a α-chain amyloidosis: results from targeted genetic testing. Am J Kidney Dis. 2017;70:235–243.
  • Schifter S. Circulating concentrations of calcitonin gene-related peptide (CGRP) in normal man determined with a new, highly sensitive radioimmunoassay. Peptides. 1991;12:365–369.
  • Yazaki M, Yoshinaga T, Sekijima Y, et al. The first pure form of Ostertag-type amyloidosis in Japan: a sporadic case of hereditary fibrinogen Aalpha-chain amyloidosis associated with a novel frameshift variant. Amyloid. 2015;22:142–144.
  • Uemichi T, Liepnieks JJ, Alexander F, et al. The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. Q J Med. 1996;89:745–750.
  • de Carvalho M, Linke RP, Domingos F, et al. Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. Amyloid. 2004;11:200–207.
  • Alves IL, Almeida MR, Skare J, et al. Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants. Clin Genet. 1992;42:27–30.
  • Pitkänen P, Westermark P, Cornwell GGIII, et al. Amyloid of the seminal vesicles. A distinctive and common localized form of senile amyloidosis. Am J Pathol. 1983;110:64–69.
  • Gillmore JD, Booth DR, Rela M, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. Q J Med. 2000;93:269–275.

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