Warasnhe, KhaledOzcay, FigenAydin, Halil IbrahimOzgun, GoncaCeylaner, Serdar2022-10-252022-10-2520222210-7401http://hdl.handle.net/11727/7883Non-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.enginfo:eu-repo/semantics/closedAccessIdiopathic noncir-rhotic portal hyper-tension (INCPH)Hepatopulmonary syndromeTRMT5Case reportarticle4680008609893000022-s2.0-85136202650