A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings
dc.contributor.author | Warasnhe, Khaled | |
dc.contributor.author | Ozcay, Figen | |
dc.contributor.author | Aydin, Halil Ibrahim | |
dc.contributor.author | Ozgun, Gonca | |
dc.contributor.author | Ceylaner, Serdar | |
dc.contributor.orcID | https://orcid.org/0000-0002-0781-5814 | en_US |
dc.contributor.pubmedID | 35460901 | en_US |
dc.date.accessioned | 2022-10-25T11:09:14Z | |
dc.date.available | 2022-10-25T11:09:14Z | |
dc.date.issued | 2022 | |
dc.description.abstract | Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity in children. Familial clusters of idiopathic non-cirrhotic portal hypertension (INCPH) were previously reported in cases with deoxyguanosine kinase (DGOUK) and potassium calcium-activated channel subfamily N member 3 (KCNN3) mutations. Herein, we report two siblings who had a novel mutation in mitochondrial tRNA methyltransferase 5 (TRMT5) gene and presented with hepatopulmonary syndrome and later diagnosed as INCPH. Autosomal recessive inheritance of this mutation may suggest a role of TRMT5 mutations in the development of NCPH. Screening of TRMT5 mutations could be considered when familial INCPH is suspected. ?? 2022 Elsevier Masson SAS. All rights reserved. | en_US |
dc.identifier.issn | 2210-7401 | en_US |
dc.identifier.issue | 8 | en_US |
dc.identifier.scopus | 2-s2.0-85136202650 | en_US |
dc.identifier.uri | http://hdl.handle.net/11727/7883 | |
dc.identifier.volume | 46 | en_US |
dc.identifier.wos | 000860989300002 | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.1016/j.clinre.2022.101928 | en_US |
dc.relation.journal | CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Idiopathic noncir-rhotic portal hyper-tension (INCPH) | en_US |
dc.subject | Hepatopulmonary syndrome | en_US |
dc.subject | TRMT5 | en_US |
dc.subject | Case report | en_US |
dc.title | A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings | en_US |
dc.type | article | en_US |
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