A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings

dc.contributor.authorWarasnhe, Khaled
dc.contributor.authorOzcay, Figen
dc.contributor.authorAydin, Halil Ibrahim
dc.contributor.authorOzgun, Gonca
dc.contributor.authorCeylaner, Serdar
dc.contributor.orcIDhttps://orcid.org/0000-0002-0781-5814en_US
dc.contributor.pubmedID35460901en_US
dc.date.accessioned2022-10-25T11:09:14Z
dc.date.available2022-10-25T11:09:14Z
dc.date.issued2022
dc.description.abstractNon-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.issn2210-7401en_US
dc.identifier.issue8en_US
dc.identifier.scopus2-s2.0-85136202650en_US
dc.identifier.urihttp://hdl.handle.net/11727/7883
dc.identifier.volume46en_US
dc.identifier.wos000860989300002en_US
dc.language.isoengen_US
dc.relation.isversionof10.1016/j.clinre.2022.101928en_US
dc.relation.journalCLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIdiopathic noncir-rhotic portal hyper-tension (INCPH)en_US
dc.subjectHepatopulmonary syndromeen_US
dc.subjectTRMT5en_US
dc.subjectCase reporten_US
dc.titleA novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblingsen_US
dc.typearticleen_US

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