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

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-dependen...

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Autores principales: Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572578/
https://www.ncbi.nlm.nih.gov/pubmed/26073778
http://dx.doi.org/10.1016/j.ajhg.2015.05.009
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author Haack, Tobias B.
Staufner, Christian
Köpke, Marlies G.
Straub, Beate K.
Kölker, Stefan
Thiel, Christian
Freisinger, Peter
Baric, Ivo
McKiernan, Patrick J.
Dikow, Nicola
Harting, Inga
Beisse, Flemming
Burgard, Peter
Kotzaeridou, Urania
Kühr, Joachim
Himbert, Urban
Taylor, Robert W.
Distelmaier, Felix
Vockley, Jerry
Ghaloul-Gonzalez, Lina
Zschocke, Johannes
Kremer, Laura S.
Graf, Elisabeth
Schwarzmayr, Thomas
Bader, Daniel M.
Gagneur, Julien
Wieland, Thomas
Terrile, Caterina
Strom, Tim M.
Meitinger, Thomas
Hoffmann, Georg F.
Prokisch, Holger
author_facet Haack, Tobias B.
Staufner, Christian
Köpke, Marlies G.
Straub, Beate K.
Kölker, Stefan
Thiel, Christian
Freisinger, Peter
Baric, Ivo
McKiernan, Patrick J.
Dikow, Nicola
Harting, Inga
Beisse, Flemming
Burgard, Peter
Kotzaeridou, Urania
Kühr, Joachim
Himbert, Urban
Taylor, Robert W.
Distelmaier, Felix
Vockley, Jerry
Ghaloul-Gonzalez, Lina
Zschocke, Johannes
Kremer, Laura S.
Graf, Elisabeth
Schwarzmayr, Thomas
Bader, Daniel M.
Gagneur, Julien
Wieland, Thomas
Terrile, Caterina
Strom, Tim M.
Meitinger, Thomas
Hoffmann, Georg F.
Prokisch, Holger
author_sort Haack, Tobias B.
collection PubMed
description 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.
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spelling pubmed-45725782016-01-02 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy Haack, Tobias B. Staufner, Christian Köpke, Marlies G. Straub, Beate K. Kölker, Stefan Thiel, Christian Freisinger, Peter Baric, Ivo McKiernan, Patrick J. Dikow, Nicola Harting, Inga Beisse, Flemming Burgard, Peter Kotzaeridou, Urania Kühr, Joachim Himbert, Urban Taylor, Robert W. Distelmaier, Felix Vockley, Jerry Ghaloul-Gonzalez, Lina Zschocke, Johannes Kremer, Laura S. Graf, Elisabeth Schwarzmayr, Thomas Bader, Daniel M. Gagneur, Julien Wieland, Thomas Terrile, Caterina Strom, Tim M. Meitinger, Thomas Hoffmann, Georg F. Prokisch, Holger Am J Hum Genet Report 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. Elsevier 2015-07-02 /pmc/articles/PMC4572578/ /pubmed/26073778 http://dx.doi.org/10.1016/j.ajhg.2015.05.009 Text en © 2015 The Authors http://creativecommons.org/licenses/by/3.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Report
Haack, Tobias B.
Staufner, Christian
Köpke, Marlies G.
Straub, Beate K.
Kölker, Stefan
Thiel, Christian
Freisinger, Peter
Baric, Ivo
McKiernan, Patrick J.
Dikow, Nicola
Harting, Inga
Beisse, Flemming
Burgard, Peter
Kotzaeridou, Urania
Kühr, Joachim
Himbert, Urban
Taylor, Robert W.
Distelmaier, Felix
Vockley, Jerry
Ghaloul-Gonzalez, Lina
Zschocke, Johannes
Kremer, Laura S.
Graf, Elisabeth
Schwarzmayr, Thomas
Bader, Daniel M.
Gagneur, Julien
Wieland, Thomas
Terrile, Caterina
Strom, Tim M.
Meitinger, Thomas
Hoffmann, Georg F.
Prokisch, Holger
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title_full Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title_fullStr Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title_full_unstemmed Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title_short Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
title_sort biallelic mutations in nbas cause recurrent acute liver failure with onset in infancy
topic Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572578/
https://www.ncbi.nlm.nih.gov/pubmed/26073778
http://dx.doi.org/10.1016/j.ajhg.2015.05.009
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