Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Sahoko Ono, Junko Matsuda, Etsuko Watanabe, Hiroto Akaike, Hideto Teranishi, Ippei Miyata, Takanobu Otomo, Yoshito Sadahira, Tatsuki Mizuochi, Hironori Kusano, Masayoshi Kage, Hiroo Ueno, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Hirokazu Kanegane, Kazunobu Ouchi

ABSTRACT

Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have been reported to cause two different clinical spectra: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome and infantile liver failure syndrome 2 (ILFS2). Here, we describe a case of a 3-year-old Japanese boy who presented with fever-triggered recurrent acute liver failure (ALF). The clinical characteristics were considerable elevation of liver enzymes, severe coagulopathy, and acute renal failure. In addition to the liver phenotype, he had short stature and Pelger-Huët anomaly in the peripheral granulocytes. Whole-exome and Sanger sequencing of the patient and his parents revealed that he carried novel compound heterozygous missense mutations in NBAS, c.1018G>C (p.Gly340Arg) and c.2674 G>T (p.Val892Phe). Both mutations affect evolutionarily conserved amino acid residues and are predicted to be highly damaging. Immunoblot analysis of the patient's skin fibroblasts showed a normal NBAS protein level but a reduced protein level of its interaction partner, p31, involved in Golgi-to-endoplasmic reticulum retrograde vesicular trafficking. We recommend NBAS gene analysis in children with unexplained fever-triggered recurrent ALF or liver dysfunction. Early antipyretic therapy may prevent further episodes of ALF. More... »

PAGES

2

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0035-5

DOI

http://dx.doi.org/10.1038/s41439-018-0035-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111241739

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30622725


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    "description": "Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have been reported to cause two different clinical spectra: short stature with optic nerve atrophy and Pelger-Hu\u00ebt anomaly (SOPH) syndrome and infantile liver failure syndrome 2 (ILFS2). Here, we describe a case of a 3-year-old Japanese boy who presented with fever-triggered recurrent acute liver failure (ALF). The clinical characteristics were considerable elevation of liver enzymes, severe coagulopathy, and acute renal failure. In addition to the liver phenotype, he had short stature and Pelger-Hu\u00ebt anomaly in the peripheral granulocytes. Whole-exome and Sanger sequencing of the patient and his parents revealed that he carried novel compound heterozygous missense mutations in NBAS, c.1018G>C (p.Gly340Arg) and c.2674\u2009G>T (p.Val892Phe). Both mutations affect evolutionarily conserved amino acid residues and are predicted to be highly damaging. Immunoblot analysis of the patient's skin fibroblasts showed a normal NBAS protein level but a reduced protein level of its interaction partner, p31, involved in Golgi-to-endoplasmic reticulum retrograde vesicular trafficking. We recommend NBAS gene analysis in children with unexplained fever-triggered recurrent ALF or liver dysfunction. Early antipyretic therapy may prevent further episodes of ALF.", 
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288 schema:name Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 108-8639, Tokyo, Japan
289 Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 108-8639, Tokyo, Japan
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291 https://www.grid.ac/institutes/grid.410781.b schema:alternateName Kurume University
292 schema:name Department of Pathology, Kurume University School of Medicine, 830-0011, Kurume, Japan
293 Department of Pediatrics and Child Health, Kurume University School of Medicine, 830-0011, Kurume, Japan
294 Research Center for Innovative Cancer Therapy, Kurume University School of Medicine, 830-0011, Kurume, Japan
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296 https://www.grid.ac/institutes/grid.415086.e schema:alternateName Kawasaki Medical School
297 schema:name Department of Pathology, Kawasaki Medical School, 701-0192, Okayama, Japan
298 Department of Pathophysiology and Metabolism, Kawasaki Medical School, 701-0192, Okayama, Japan
299 Department of Pediatrics, Kawasaki Medical School, 701-0192, Okayama, Japan
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301 https://www.grid.ac/institutes/grid.440883.3 schema:alternateName Jobu University
302 schema:name Institute of Physiology and Medicine, Jobu University, 370-1393, Gunma, Japan
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