{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kashimada A"],"funding":["JSPS KAKENHI"],"pagination":["e190094"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12220945"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(11)"],"pubmed_abstract":["Systemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD is a cerebral angiopathy, and MAS affects the abdominal and thoracic aorta. Although some genetic associations with MAS have been identified, the causes remain elusive. In this study, de novo heterozygous missense variants of RING finger protein 213 (RNF213) (p.His4058Pro and p.Thr4155Pro) in 2 unrelated families with MAS and MMD were studied by whole-exome sequencing. To elucidate the significance of these variants, we produced knockin mice carrying the Rnf213 p.His4058Pro variant. Homozygous knockin mice exhibited perinatal lethality because of respiratory failure and lung dysplasia, suggesting that this variant is pathogenic. Lung dysplasia in homoz"],"journal":["JCI insight"],"pubmed_title":["De novo variant in RING finger protein 213 causes systemic vasculopathy."],"pmcid":["PMC12220945"],"funding_grant_id":["21K15858"],"pubmed_authors":["Kashimada A","Mizuno T","Hosokawa S","Tanaka E","Udagawa T","Kosaki K","Hiraoka Y","Morio T","Uchida K","Takagi M"],"additional_accession":[]},"is_claimable":false,"name":"De novo variant in RING finger protein 213 causes systemic vasculopathy.","description":"Systemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD is a cerebral angiopathy, and MAS affects the abdominal and thoracic aorta. Although some genetic associations with MAS have been identified, the causes remain elusive. In this study, de novo heterozygous missense variants of RING finger protein 213 (RNF213) (p.His4058Pro and p.Thr4155Pro) in 2 unrelated families with MAS and MMD were studied by whole-exome sequencing. To elucidate the significance of these variants, we produced knockin mice carrying the Rnf213 p.His4058Pro variant. Homozygous knockin mice exhibited perinatal lethality because of respiratory failure and lung dysplasia, suggesting that this variant is pathogenic. Lung dysplasia in homoz","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jun","modification":"2026-06-01T15:41:25.276Z","creation":"2026-04-08T13:44:37.432Z"},"accession":"S-EPMC12220945","cross_references":{"pubmed":["40485582"],"doi":["10.1172/jci.insight.190094"]}}