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

被引：108

作者：

Haack, Tobias B. ^{[1
,2
]}

Staufner, Christian ^{[3
]}

Koepke, Marlies G. ^{[1
,2
]}

Straub, Beate K. ^{[4
]}

Koelker, Stefan ^{[3
]}

Thiel, Christian ^{[3
]}

Freisinger, Peter ^{[5
]}

Baric, Ivo ^{[6
,7
]}

McKiernan, Patrick J. ^{[8
]}

Dikow, Nicola ^{[9
]}

Harting, Inga ^{[10
]}

Beisse, Flemming ^{[11
]}

Burgard, Peter ^{[3
]}

Kotzaeridou, Urania ^{[3
]}

Kuehr, Joachim ^{[12
]}

Himbert, Urban ^{[13
]}

Taylor, Robert W. ^{[14
]}

Distelmaier, Felix ^{[15
]}

Vockley, Jerry ^{[16
]}

Ghaloul-Gonzalez, Lina ^{[16
]}

Zschocke, Johannes ^{[17
]}

Kremer, Laura S. ^{[2
]}

Graf, Elisabeth ^{[2
]}

Schwarzmayr, Thomas ^{[2
]}

Bader, Daniel M. ^{[18
]}

Gagneur, Julien ^{[18
]}

Wieland, Thomas ^{[2
]}

Terrile, Caterina ^{[2
]}

Strom, Tim M. ^{[1
,2
]}

Meitinger, Thomas ^{[1
,2
]}

Hoffmann, Georg F. ^{[3
]}

Prokisch, Holger ^{[1
,2
]}

机构：

[1] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany

[2] Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany

[3] Univ Heidelberg Hosp, Dept Gen Pediat, Div Neuropediat & Metab Med, D-69120 Heidelberg, Germany

[4] Univ Heidelberg Hosp, Inst Pathol, D-69120 Heidelberg, Germany

[5] Childrens Hosp Reutlingen, D-72764 Reutlingen, Germany

[6] Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb 10000, Croatia

[7] Univ Zagreb, Sch Med, Zagreb 10000, Croatia

[8] Birmingham Childrens Hosp, Liver Unit, Birmingham B4 6NH, W Midlands, England

[9] Univ Heidelberg Hosp, Inst Human Genet, D-69120 Heidelberg, Germany

[10] Univ Heidelberg Hosp, Dept Neuroradiol, D-69120 Heidelberg, Germany

[11] Univ Heidelberg Hosp, Dept Ophthalmol, D-69120 Heidelberg, Germany

[12] Childrens Hosp Karlsruhe, D-76133 Karlsruhe, Germany

[13] Childrens Hosp St Elisabeth, D-56564 Neuwied, Germany

[14] Newcastle Univ, Sch Med, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[15] Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany

[16] Univ Pittsburgh, Sch Med, Childrens Hosp Pittsburgh UPMC, Pittsburgh, PA 15224 USA

[17] Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria

[18] Univ Munich, Gene Ctr, Computat Genom, D-81377 Munich, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2015年 / 97卷 / 01期

基金：

英国惠康基金;

关键词：

GENE; DEFICIENCY;

D O I：

10.1016/j.ajhg.2015.05.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：163 / 169

页数：7

共 19 条

[1] A defect in the transport of long-chain fatty acids associated with acute liver failure [J].

Al Odaib, A ;

Shneider, BL ;

Bennett, MJ ;

Pober, BR ;

Reyes-Mugica, M ;

Friedman, AL ;

Suchy, FJ ;

Rinaldo, P .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 339 (24) :1752-1757

[2] HTSeq-a Python']Python framework to work with high-throughput sequencing data [J].

Anders, Simon ;

Pyl, Paul Theodor ;

Huber, Wolfgang .

BIOINFORMATICS, 2015, 31 (02) :166-169

[3] Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport [J].

Aoki, Takehiro ;

Ichimura, Sarah ;

Itoh, Ayano ;

Kuramoto, Mami ;

Shinkawa, Takashi ;

Isobe, Toshiaki ;

Tagaya, Mitsuo .

MOLECULAR BIOLOGY OF THE CELL, 2009, 20 (11) :2639-2649

[4] UniProt: a hub for protein information [J].

Bateman, Alex ;

Martin, Maria Jesus ;

O'Donovan, Claire ;

Magrane, Michele ;

Apweiler, Rolf ;

Alpi, Emanuele ;

Antunes, Ricardo ;

Arganiska, Joanna ;

Bely, Benoit ;

Bingley, Mark ;

Bonilla, Carlos ;

Britto, Ramona ;

Bursteinas, Borisas ;

Chavali, Gayatri ;

Cibrian-Uhalte, Elena ;

Da Silva, Alan ;

De Giorgi, Maurizio ;

Dogan, Tunca ;

Fazzini, Francesco ;

Gane, Paul ;

Cas-tro, Leyla Garcia ;

Garmiri, Penelope ;

Hatton-Ellis, Emma ;

Hieta, Reija ;

Huntley, Rachael ;

Legge, Duncan ;

Liu, Wudong ;

Luo, Jie ;

MacDougall, Alistair ;

Mutowo, Prudence ;

Nightin-gale, Andrew ;

Orchard, Sandra ;

Pichler, Klemens ;

Poggioli, Diego ;

Pundir, Sangya ;

Pureza, Luis ;

Qi, Guoying ;

Rosanoff, Steven ;

Saidi, Rabie ;

Sawford, Tony ;

Shypitsyna, Aleksandra ;

Turner, Edward ;

Volynkin, Vladimir ;

Wardell, Tony ;

Watkins, Xavier ;

Zellner, Hermann ;

Cowley, Andrew ;

Figueira, Luis ;

Li, Weizhong ;

McWilliam, Hamish .

NUCLEIC ACIDS RESEARCH, 2015, 43 (D1) :D204-D212

[5] Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome [J].

Brassier, Anais ;

Ottolenghi, Chris ;

Boutron, Audrey ;

Bertrand, Anne-Marie ;

Valmary-Degano, Severine ;

Cervoni, Jean-Paul ;

Chretien, Dominique ;

Arnoux, Jean-Baptiste ;

Hubert, Laurence ;

Rabier, Daniel ;

Lacaille, Florence ;

de Keyzer, Yves ;

Di Martino, Vincent ;

de Lonlay, Pascale .

MOLECULAR GENETICS AND METABOLISM, 2013, 109 (01) :28-32

[6] Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome [J].

Engelmann, G. ;

Meyburg, J. ;

Shahbek, N. ;

Al-Ali, M. ;

Hairetis, M. H. ;

Baker, A. J. ;

Rodenburg, R. J. T. ;

Wenning, D. ;

Flechtenmacher, C. ;

Ellard, S. ;

Smeitink, J. A. ;

Hoffmann, G. F. ;

Buchanan, C. R. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 (04) :540-546

[7] Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening [J].

Haack, Tobias B. ;

Gorza, Matteo ;

Danhauser, Katharina ;

Mayr, Johannes A. ;

Haberberger, Birgit ;

Wieland, Thomas ;

Kremer, Laura ;

Strecker, Valentina ;

Graf, Elisabeth ;

Memari, Yasin ;

Ahting, Uwe ;

Kopajtich, Robert ;

Wortmann, Saskia B. ;

Rodenburg, Richard J. ;

Kotzaeridou, Urania ;

Hoffmann, Georg F. ;

Sperl, Wolfgang ;

Wittig, Ilka ;

Wilichowski, Ekkehard ;

Schottmann, Gudrun ;

Schuelke, Markus ;

Plecko, Barbara ;

Stephani, Ulrich ;

Strom, Tim M. ;

Meitinger, Thomas ;

Prokisch, Holger ;

Freisinger, Peter .

MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) :342-352

[8] ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy [J].

Haack, Tobias B. ;

Kopajtich, Robert ;

Freisinger, Peter ;

Wieland, Thomas ;

Rorbach, Joanna ;

Nicholls, Thomas J. ;

Baruffini, Enrico ;

Walther, Anett ;

Danhauser, Katharina ;

Zimmermann, Franz A. ;

Husain, Ralf A. ;

Schum, Jessica ;

Mundy, Helen ;

Ferrero, Ileana ;

Strom, Tim M. ;

Meitinger, Thomas ;

Taylor, Robert W. ;

Minczuk, Michal ;

Mayr, Johannes A. ;

Prokisch, Holger .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (02) :211-223

[9] Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA [J].

Haack, Tobias B. ;

Hogarth, Penelope ;

Kruer, Michael C. ;

Gregory, Allison ;

Wieland, Thomas ;

Schwarzmayr, Thomas ;

Graf, Elisabeth ;

Sanford, Lynn ;

Meyer, Esther ;

Kara, Eleanna ;

Cuno, Stephan M. ;

Harik, Sami I. ;

Dandu, Vasuki H. ;

Nardocci, Nardo ;

Zorzi, Giovanna ;

Dunaway, Todd ;

Tarnopolsky, Mark ;

Skinner, Steven ;

Frucht, Steven ;

Hanspal, Era ;

Schrander-Stumpel, Connie ;

Heron, Delphine ;

Mignot, Cyril ;

Garavaglia, Barbara ;

Bhatia, Kailash ;

Hardy, John ;

Strom, Tim M. ;

Boddaert, Nathalie ;

Houlden, Henry H. ;

Kurian, Manju A. ;

Meitinger, Thomas ;

Prokisch, Holger ;

Hayflick, Susan J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (06) :1144-1149

[10] Tethering the assembly of SNARE complexes [J].

Hong, WanJin ;

Lev, Sima .

TRENDS IN CELL BIOLOGY, 2014, 24 (01) :35-43

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