Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy

Haack, Tobias B. and Staufner, Christian and Köpke, Marlies G. and Straub, Beate K. and Kölker, Stefan and Thiel, Christian and Freisinger, Peter and Barić, Ivo and McKiernan, Patrick J. and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Kühr, Joachim and Himbert, Urban and Taylor, Robert W. and Distelmaier, Felix and Vockley, Jerry and Ghaloul-Gonzalez, Lina and Zschocke, Johannes and Kremer, Laura S. and Graf, Elisabeth and Schwarzmayr, Thomas and Bader, Daniel M. and Gagneur, Julien and Wieland, Thomas and Terrile, Caterina and Strom, Tim M. and Meitinger, Thomas and Hoffmann, Georg F. and Prokisch, Holger (2015) Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics, 97 (1). pp. 163-169. ISSN 0002-9297

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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.

Item Type: Article
Additional Information: Copyright © 2015 The Authors This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0).
MeSH: Base Sequence ; Biological Transport/genetics ; Exome/genetics ; Fibroblasts/metabolism ; Gene Frequency ; Germany ; Humans ; Immunoblotting ; Infant ; Liver Failure, Acute/genetics ; Molecular Sequence Data ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Pedigree ; Recurrence ; Sequence Analysis, DNA
Departments: Katedra za pedijatriju
Depositing User: Marijan Šember
Status: Published
Creators:
CreatorsEmail
Haack, Tobias B.UNSPECIFIED
Staufner, ChristianUNSPECIFIED
Köpke, Marlies G.UNSPECIFIED
Straub, Beate K.UNSPECIFIED
Kölker, StefanUNSPECIFIED
Thiel, ChristianUNSPECIFIED
Freisinger, PeterUNSPECIFIED
Barić, IvoUNSPECIFIED
McKiernan, Patrick J.UNSPECIFIED
Dikow, NicolaUNSPECIFIED
Harting, IngaUNSPECIFIED
Beisse, FlemmingUNSPECIFIED
Burgard, PeterUNSPECIFIED
Kotzaeridou, UraniaUNSPECIFIED
Kühr, JoachimUNSPECIFIED
Himbert, UrbanUNSPECIFIED
Taylor, Robert W.UNSPECIFIED
Distelmaier, FelixUNSPECIFIED
Vockley, JerryUNSPECIFIED
Ghaloul-Gonzalez, LinaUNSPECIFIED
Zschocke, JohannesUNSPECIFIED
Kremer, Laura S.UNSPECIFIED
Graf, ElisabethUNSPECIFIED
Schwarzmayr, ThomasUNSPECIFIED
Bader, Daniel M.UNSPECIFIED
Gagneur, JulienUNSPECIFIED
Wieland, ThomasUNSPECIFIED
Terrile, CaterinaUNSPECIFIED
Strom, Tim M.UNSPECIFIED
Meitinger, ThomasUNSPECIFIED
Hoffmann, Georg F.UNSPECIFIED
Prokisch, HolgerUNSPECIFIED
Date: 2 July 2015
Date Deposited: 02 Feb 2016 13:59
Last Modified: 23 Jul 2020 06:52
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/2390

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