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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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Weitere Verfasser: Haack, Tobias (BerichterstatterIn) , Kotzaeridou, Urania (BerichterstatterIn) , Hoffmann, Georg F. (BerichterstatterIn) , Staufner, Christian (BerichterstatterIn) , Straub, Beate Katharina (BerichterstatterIn) , Kölker, Stefan (BerichterstatterIn) , Thiel, Christian (BerichterstatterIn) , Dikow, Nicola (BerichterstatterIn) , Harting, Inga (BerichterstatterIn) , Beisse, Flemming (BerichterstatterIn) , Burgard, Peter (BerichterstatterIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 11 June 2015
In: The American journal of human genetics
Year: 2015, Jahrgang: 97, Heft: 1, Pages: 163-169
ISSN:1537-6605
DOI:10.1016/j.ajhg.2015.05.009
Online-Zugang:Resolving-System, kostenfrei, Volltext: http://dx.doi.org/10.1016/j.ajhg.2015.05.009
Volltext
Verfasserangaben:Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, and Holger Prokisch
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 17.02.2021
Beschreibung:Online Resource
ISSN:1537-6605
DOI:10.1016/j.ajhg.2015.05.009

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