ArticleBMC gastroenterology2017
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
Article in BMC gastroenterology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- The incidence, frequency of late liver-related complications, and transplant likelihood in pediatric acute liver failure in Californian children.Hepatology communications · 2026Article
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- [Clinical features and genetic study of four cases of pediatric acute liver failure caused byZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review.Frontiers in pediatrics · 2025Article
- Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.Frontiers in pediatrics · 2025Article
- A novel splicing variant inFrontiers in genetics · 2025Article
- Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy: A case report.Clinical case reports · 2023Article
- Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.Journal of clinical laboratory analysis · 2022Article
- A mysterious cause of recurrent acute liver dysfunction for over a decade.Gastroenterology report · 2022Article
- Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation.Pediatric transplantation · 2021Article
- NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.Metabolic brain disease · 2021Article
- Novel compound heterozygous variants in theBMJ case reports · 2021Article
- Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.BMC gastroenterology · 2020Article
- Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- [A case of recurrent abnormal liver function in children resulting from neuroblastoma amplified sequence gene defect].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2020Article
- Complex Multisystem Phenotype With Immunodeficiency Associated WithFrontiers in pediatrics · 2020Article
- Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (Frontiers in pediatrics · 2020Article
- RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.American journal of human genetics · 2019Article
- Recurrent acute liver failure associated with novelWorld journal of clinical cases · 2019Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUnderlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children.
methodsFive unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied. Results of whole exome sequencing were screened for mutations in candidate genes. Mutations were verified in patients and their family members by Sanger sequencing. All 5 boys underwent liver biopsy.
resultsNBAS was the only candidate gene mutated in more than one patient (biallelic mutations, 3 of 5 patients; 5 separate mutations). All NBAS mutations were novel and predictedly pathogenic (frameshift insertion mutation c.6611_6612insCA, missense mutations c.2407G > A and c.3596G > A, nonsense mutation c.586C > T, and splicing-site mutation c.5389 + 1G > T). Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related RALF), with markedly elevated alanine aminotransferase and aspartate aminotransferase activities 24-72 h after elevation of body temperature, succeeded by severe coagulopathy and mild to moderate jaundice.
conclusionsAs in other countries, so too in China; NBAS disease is a major cause of fever-related RALF in children. The mutation spectrum of NBAS in Chinese children seems different from that described in other populations.
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