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

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; Holger Prokisch

doi:10.1016/j.ajhg.2015.05.009

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

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-GonzalezJohannes 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, Holger Prokisch

Medicine and Health

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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.

Original language	English
Pages (from-to)	163-169
Number of pages	7
Journal	American Journal of Human Genetics
Volume	97
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2015.05.009
State	Published - 2015

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Haack, T. B., Staufner, C., Köpke, M. G., Straub, B. K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P. J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Kühr, J., Himbert, U., Taylor, R. W., Distelmaier, F., Vockley, J., ... 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

@article{6052fd85f0bf4dfbafdaeebb85f846b8,

title = "Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy",

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.",

author = "Haack, {Tobias B.} and Christian Staufner and K{\"o}pke, {Marlies G.} and Straub, {Beate K.} and Stefan K{\"o}lker and Christian Thiel and Peter Freisinger and Ivo Baric and McKiernan, {Patrick J.} and Nicola Dikow and Inga Harting and Flemming Beisse and Peter Burgard and Urania Kotzaeridou and Joachim K{\"u}hr and Urban Himbert and Taylor, {Robert W.} and Felix Distelmaier and Jerry Vockley and Lina Ghaloul-Gonzalez and Johannes Zschocke and Kremer, {Laura S.} and Elisabeth Graf and Thomas Schwarzmayr and Bader, {Daniel M.} and Julien Gagneur and Thomas Wieland and Caterina Terrile and Strom, {Tim M.} and Thomas Meitinger and Hoffmann, {Georg F.} and Holger Prokisch",

note = "Publisher Copyright: {\textcopyright} 2015 The Authors.",

year = "2015",

doi = "10.1016/j.ajhg.2015.05.009",

language = "English",

volume = "97",

pages = "163--169",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

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Haack, TB, Staufner, C, Köpke, MG, Straub, BK, Kölker, S, Thiel, C, Freisinger, P, Baric, I, McKiernan, PJ, Dikow, N, Harting, I, Beisse, F, Burgard, P, Kotzaeridou, U, Kühr, 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, 'Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy', American Journal of Human Genetics, vol. 97, no. 1, pp. 163-169. https://doi.org/10.1016/j.ajhg.2015.05.009

TY - JOUR

T1 - Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

AU - Haack, Tobias B.

AU - Staufner, Christian

AU - Köpke, Marlies G.

AU - Straub, Beate K.

AU - Kölker, Stefan

AU - Thiel, Christian

AU - Freisinger, Peter

AU - Baric, Ivo

AU - McKiernan, Patrick J.

AU - Dikow, Nicola

AU - Harting, Inga

AU - Beisse, Flemming

AU - Burgard, Peter

AU - Kotzaeridou, Urania

AU - Kühr, Joachim

AU - Himbert, Urban

AU - Taylor, Robert W.

AU - Distelmaier, Felix

AU - Vockley, Jerry

AU - Ghaloul-Gonzalez, Lina

AU - Zschocke, Johannes

AU - Kremer, Laura S.

AU - Graf, Elisabeth

AU - Schwarzmayr, Thomas

AU - Bader, Daniel M.

AU - Gagneur, Julien

AU - Wieland, Thomas

AU - Terrile, Caterina

AU - Strom, Tim M.

AU - Meitinger, Thomas

AU - Hoffmann, Georg F.

AU - Prokisch, Holger

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84937522236&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2015.05.009

DO - 10.1016/j.ajhg.2015.05.009

M3 - Article

C2 - 26073778

AN - SCOPUS:84937522236

SN - 0002-9297

VL - 97

SP - 163

EP - 169

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

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

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