256
Views
4
CrossRef citations to date
0
Altmetric
Original Article

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

ORCID Icon, , , , , , , & show all
Pages 305-313 | Received 16 Oct 2018, Accepted 18 May 2019, Published online: 01 Jun 2019

References

  • Anderson K, Sassa S, Bishop DF, et al. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaugrand M, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. New York (NY): McGraw-Hill; 2001. p. 2991–3062.
  • Minder EI, Schneider-Yin X. The porphyrias. In: Rakel RE, Bope ET, editors. Conn's current therapy. Philadelphia (PA): Saunders (Elsevier Science USA); 2003. p. 506–509.
  • Schneider-Yin X, Harms J, Minder EI. Porphyria in Switzerland, 15 years experience. Swiss Med Wkly. 2009;139:198–206.
  • Whatley SD, Badminton MN. Role of genetic testing in the management of patients with inherited porphyria and their families. Ann Clin Biochem. 2013;50:204–216.
  • Ulbrichova D, Schneider-Yin X, Mamet R, et al. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. Blood Cells Mol Dis. 2009;42:167–173.
  • Whatley SD, Mason NG, Woolf JR, et al. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem. 2009;55:1406–1414.
  • Szlendak U, Lipniacka A, Bianketti J, et al. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria. Adv Clin Exp Med. 2015;24:63–68.
  • Schneider-Yin X, Van Tuyll van Serooskerken AM, Siegesmund M, et al. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. J Hepatol. 2015;62:734–738.
  • Tops BB, Normanno N, Kurth H, et al. Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium. BMC Cancer. 2015;15:26.
  • Schneider-Yin X, Minder EI. Swiss patients with variegate porphyria have unique mutations. Swiss Med Wkly. 2006;136:515–519.
  • Manceau H, Gouya L, Puy H. Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments. Curr Opin Hematol. 2017;24:198–207.
  • Chan A, Liebow A, Yasuda M, et al. Preclinical development of a subcutaneous ALAS1 RNAi therapeutic for treatment of hepatic porphyrias using circulating RNA quantification. Mol Ther Nucleic Acids. 2015;4:e263.
  • Yasuda M, Gan L, Chen B, et al. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci USA. 2014;111:7777–7782.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.