{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ochoa E"],"funding":["King Abdullah University of Science and Technology (KAUST)","Marie Curie Initial Training Network Award","NIHR | NIHR Cambridge Biomedical Research Centre (NIHR Cambridge BRC)","EpiGenRare MRC Rare Diseases Node funding","Alan Turing Institute under the Engineering and Physical Sciences Research Council","Rosetrees Trust (Rosetrees)","Medical Research Counc"],"pagination":["e2505884122"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12403135"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["122(34)"],"pubmed_abstract":["The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith-Wiedemann spectrum (BWSp) is a prototypic CID resulting from genetic and epigenetic alterations of imprinted genes at chromosome 11p15.5. In up to a quarter of individuals with BWSp, the epigenetic alterations are not confined to 11p15.5 imprinting control regions but also involve other imprinted gene clusters (multilocus imprinting disturbance; MLID). In a consanguineous family with two children diagnosed with BWSp and MLID, the affected individuals were homozygous for a missense variant in <i>UHRF1</i>, a gene previously implicated in the maintenance of DNA methylation. To investigate whether the"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Germline variants in &lt;i&gt;UHRF1&lt;/i&gt; are associated with multilocus imprinting disturbance in humans and mice."],"pmcid":["PMC12403135"],"funding_grant_id":["EP/N510129/1","INGENIUM","MRC_MC_UU_12012/4","MR/Y008170/1","PhDPlus","OSR-GRG2019-4043","BRC-1215-20014"],"pubmed_authors":["Docquier F","Rodger F","Clark G","Ochoa E","Bottolo L","Constancia M","Yngvadottir B","Lan-Leung B","Foster-Hall D","Zvetkova I","Martin E","Hobson E","Toribio A","Takahashi N","Issa M","Ferguson-Smith AC","Liv Lee S","Maher ER","Fischle W"],"additional_accession":[]},"is_claimable":false,"name":"Germline variants in &lt;i&gt;UHRF1&lt;/i&gt; are associated with multilocus imprinting disturbance in humans and mice.","description":"The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith-Wiedemann spectrum (BWSp) is a prototypic CID resulting from genetic and epigenetic alterations of imprinted genes at chromosome 11p15.5. In up to a quarter of individuals with BWSp, the epigenetic alterations are not confined to 11p15.5 imprinting control regions but also involve other imprinted gene clusters (multilocus imprinting disturbance; MLID). In a consanguineous family with two children diagnosed with BWSp and MLID, the affected individuals were homozygous for a missense variant in <i>UHRF1</i>, a gene previously implicated in the maintenance of DNA methylation. To investigate whether the","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-07-15T06:27:09.509Z","creation":"2026-07-01T03:07:24.878Z"},"accession":"S-EPMC12403135","cross_references":{"pubmed":["40825131"],"doi":["10.1073/pnas.2505884122"]}}