Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Haack TB, Staufner C, Koepke MG, Straub BK, Koelker S, Thiel C, Freisinger P, Baric I, Mckiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuehr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H (2015)

Publication Type: Journal article

Publication year: 2015

Journal

American Journal of Human Genetics Elsevier (Cell Press)

Book Volume: 97

Pages Range: 163-169

Journal Issue: 1

DOI: 10.1016/j.ajhg.2015.05.009

Abstract

Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever.

Involved external institutions

Technische Universität München (TUM) DE Germany (DE) Universitätsklinikum Heidelberg DE Germany (DE) Klinikum am Steinenberg Reutlingen DE Germany (DE) Zagreb University Hospital Centre / Klinički bolnički centar Zagreb (KBC) HR Croatia (HR) Birmingham Women's and Children's NHS Foundation Trust GB United Kingdom (GB) Städtisches Klinikum Karlsruhe DE Germany (DE) Marienhaus Klinikum Bendorf - Neuwied - Waldbreitbach DE Germany (DE) Newcastle University GB United Kingdom (GB) Heinrich-Heine-Universität Düsseldorf DE Germany (DE) University of Pittsburgh US United States (USA) (US) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Medizinische Universität Innsbruck AT Austria (AT)

How to cite

APA:

Haack, T.B., Staufner, C., Koepke, M.G., Straub, B.K., Koelker, S., Thiel, C.,... Prokisch, H. (2015). Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. American Journal of Human Genetics, 97(1), 163-169. https://doi.org/10.1016/j.ajhg.2015.05.009

MLA:

Haack, Tobias B., et al. "Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy." American Journal of Human Genetics 97.1 (2015): 163-169.

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