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Genetics

Novel causative genes for polycystic liver disease

Nature Reviews Gastroenterology & Hepatology volume 14, pages 391–392 (2017)Cite this article

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A new study identifies heterozygous loss-of-function mutations in three additional genes (ALG8, SEC61B and PKHD1) as causative for the development and progression of isolated polycystic liver diseases. Mutations in these genes, together with previously described mutations in other genes (PRKCSH, SEC63, LRP5 and GANAB), might now explain ∼50% of PLD cases.

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Figure 1: Genes found mutated in polycystic liver disease.

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  • 05 June 2017

    In the original version of this article published online, one instance of ARPKD was spelt incorrectly. The error has been corrected for the HTML, print and PDF versions of the article.

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Acknowledgements

The authors acknowledge the support of the following bodies: Spanish Ministry of Economy and Competitiveness (to J.M.B.: FIS PI12/00380, FIS PI15/01132 and Miguel Servet Programme CON14/00129; to M.J.P.: FIS PI14/ 00399 and Ramon y Cajal Programme RYC-2015-17755); cofinanced by Fondo Europeo de Desarrollo Regional (FEDER); Instituto de Salud Carlos III (CIBERehd: J.M.B. and M.J.P.), Spain; “Diputación Foral Gipuzkoa” (J.M.B.: DFG15/010, DFG16/004), Basque Foundation for Innovation and Health Research (BIOEF): EiTB Maratoia (BIO15/CA/016/BD to J.M.B.); Department of Health of the Basque Country (2015111100 to M.J.P.).

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Authors and Affiliations

  1. María J. Perugorria and Jesús M. Banales are at the Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute – Donostia University Hospital, Paseo del Dr. Begiristain s/n, E-20014, San Sebastian, Spain; at the National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Instituto de Salud Carlos III), 28029, Madrid, Spain; and at the IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain.,

    María J. Perugorria & Jesús M. Banales

  2. at the National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Instituto de Salud Carlos III), 28029, Madrid, Spain,

    María J. Perugorria & Jesús M. Banales

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  1. María J. Perugorria
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Correspondence to Jesús M. Banales.

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The authors declare no competing financial interests.

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Perugorria, M., Banales, J. Novel causative genes for polycystic liver disease. Nat Rev Gastroenterol Hepatol 14, 391–392 (2017). https://doi.org/10.1038/nrgastro.2017.69

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