ArticleJournal of hepatology2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
Article in Journal of hepatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 57 citations in OpenAlex.
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant ofJIMD reports · 2025Article
- MtDNA 3243 A>G mutation and recurrent cholangitis after Kasai procedure in biliary atresia: a case report.Translational pediatrics · 2025Article
- Cholestatic Liver Disease in a Child with KIF12 Mutation.Indian journal of pediatrics · 2024Article
- Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.Journal of cellular and molecular medicine · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.Journal of hepatology · 2023Review
- Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy: A case report.Clinical case reports · 2023Article
- SERPINB11 variant-related liver injury in STEC-HUS: case reports and literature review.Pediatric nephrology (Berlin, Germany) · 2022Review
- Genomic medicine for liver disease.Hepatology (Baltimore, Md.) · 2022Review
- Loss of mpv17 affected early embryonic development via mitochondria dysfunction in zebrafish.Cell death discovery · 2021Article
- Undiagnosed liver diseases.Translational gastroenterology and hepatology · 2021Review
- Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.BMC gastroenterology · 2020Article
- Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.Orphanet journal of rare diseases · 2020Article
- Exome Sequencing in Clinical Hepatology.Hepatology (Baltimore, Md.) · 2019Review
- Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: A Pilot Study.Clinical and translational gastroenterology · 2019Article
- Clinical utility of genomic analysis in adults with idiopathic liver disease.Journal of hepatology · 2019Article
- Recessive Mutations inHepatology communications · 2019Article
- Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Annals of neurology · 2017Article
- ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
BACKGROUND &
aimsIn children with liver failure, as many as half remain of indeterminate aetiology. This hinders timely consideration of optimal treatment options. We posit that a significant subset of these children harbour known inherited metabolic liver diseases with atypical presentation or novel inborn errors of metabolism. We investigated the utility of whole-exome sequencing in three children with advanced liver disease of indeterminate aetiology.
methodsPatient 1 was a 10 year-old female diagnosed with Wilson disease but no detectable ATP7B mutations, and decompensated liver cirrhosis who underwent liver transplant and subsequently developed onset of neurodegenerative disease. Patient 2 was a full-term 2 day-old male with fatal acute liver failure of indeterminate aetiology. Patient 3 was an 8 year-old female with progressive syndromic cholestasis of unknown aetiology since age 3 months.
resultsUnbiased whole-exome sequencing of germline DNA revealed homozygous mutations in MPV17 and SERAC1 as the disease causing genes in patient 1 and 2, respectively. This is the first demonstration of SERAC1 loss-of-function associated fatal acute liver failure. Patient 1 expands the phenotypic spectrum of the MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations.
conclusionsOur findings validate the application of whole-exome sequencing in the diagnosis and management of children with advanced liver disease of indeterminate aetiology, with the potential to enhance optimal selection of treatment options and adequate counselling of families. Moreover, whole-exome sequencing revealed a hitherto unrecognized phenotypic spectrum of inherited metabolic liver diseases.
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