{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Marques F"],"funding":["National Institute of Arthritis and Musculoskeletal and Skin Diseases","Joseph Drown Foundation","March of Dimes Foundation","NIAMS NIH HHS","National Institute of General Medical Sciences","CAPES","NIGMS NIH HHS"],"pagination":["e1006307"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5021280"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(9)"],"pubmed_abstract":["The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an SF3B4 mutation. We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to red"],"journal":["PLoS genetics"],"pubmed_title":["Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis."],"pmcid":["PMC5021280"],"funding_grant_id":["RO1AR066124","T32 GM008243","5T32GM008243","PVE-A120/2013","564537/2010","R01 AR066124","none","R01 AR062651","R01AR062651"],"pubmed_authors":["Krakow D","Pogue R","Tenney J","Duran I","Cohn DH","Martin J","Marques F","Li B","Nevarez L"],"additional_accession":[]},"is_claimable":false,"name":"Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.","description":"The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a component of the U2 small nuclear ribonucleoprotein particle (U2 snRNP). Furthermore, a case with a phenotype intermediate between Rodriguez and Nager syndromes has been shown to have an SF3B4 mutation. We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. The mutations led to red","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Sep","modification":"2026-04-08T01:58:05.03Z","creation":"2019-03-26T22:48:08Z"},"accession":"S-EPMC5021280","cross_references":{"pubmed":["27622494"],"doi":["10.1371/journal.pgen.1006307"]}}