ArticleHepatology (Baltimore, Md.)2016
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
Article in Hepatology (Baltimore, Md.), 2016. 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, 65 citations in OpenAlex.
- Overview of Non-Cirrhotic Portal Hypertension in Pediatric Patients.Journal of clinical medicine · 2026Review
- Multicenter analysis on the correlation between the anatomical characteristics of hepatic veins and hepatic venous wedge pressure.World journal of gastroenterology · 2025Article
- Non-cirrhotic intrahepatic portal hypertension: Is the gun loaded?Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.Brain communications · 2024Article
- The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Scientific reports · 2023Article
- Porto-sinusoidal vascular disease: a new definition of an old clinical entity.Clinical and experimental hepatology · 2023Review
- A Narrative Review on Non-Cirrohotic Portal Hypertension: Not All Portal Hypertensions Mean Cirrhosis.Diagnostics (Basel, Switzerland) · 2023Review
- Case report: NovelFrontiers in pediatrics · 2023Article
- AiLIVER · 2022Review
- GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.The Journal of experimental medicine · 2021Article
- Idiopathic Non-Cirrhotic Portal Hypertension and Porto-Sinusoidal Vascular Disease: Review of Current Data.Gastroenterology research · 2021Review
- [Progress in the diagnosis and treatment of idiopathic non-cirrhotic portal hypertension].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
- Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.Frontiers in genetics · 2021Article
- Undiagnosed liver diseases.Translational gastroenterology and hepatology · 2021Review
- Exome Sequencing in Clinical Hepatology.Hepatology (Baltimore, Md.) · 2019Review
- The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.EMBO molecular medicine · 2019Article
- Porto-Sinusoidal Vascular Disease Associated to Oxaliplatin: An Entity to Think about It.Cells · 2019Review
- What makes non-cirrhotic portal hypertension a common disease in India? Analysis for environmental factors.The Indian journal of medical research · 2019Review
- Recessive Mutations inHepatology communications · 2019Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
unlabelledDespite advances in the diagnosis and management of idiopathic noncirrhotic portal hypertension, its pathogenesis remains elusive. Insight may be gained from study of early-onset familial idiopathic noncirrhotic portal hypertension, in which Mendelian mutations may account for disease. We performed exome sequencing of eight subjects from six kindreds with onset of portal hypertension of indeterminate etiology during infancy or childhood. Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated that the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with noncirrhotic liver disease for 6-16 years of follow-up. This mutation impairs adenosine triphosphate binding and reduces catalytic activity. Loss-of-function mutations in DGUOK have previously been implicated in cirrhosis and liver failure but not in isolated portal hypertension. Interestingly, treatment of patients with human immunodeficiency viral infection with the nucleoside analogue didanosine is known to cause portal hypertension in a subset of patients and lowers deoxyguanosine kinase levels in vitro; the current findings implicate these effects on deoxyguanosine kinase in the causal mechanism.
conclusionOur findings provide new insight into the mechanisms mediating inherited and acquired noncirrhotic portal hypertension, expand the phenotypic spectrum of DGUOK deficiency, and provide a new genetic test for a specific cause of idiopathic noncirrhotic portal hypertension. (Hepatology 2016;63:1977-1986).
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