Germline variants in <i>UHRF1</i> are associated with multilocus imprinting disturbance in humans and mice.

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 UHRF1, a gene previously implicated in the maintenance of DNA methylation. To investigate whether the

SUBMITTER: Ochoa E 

PROVIDER: S-EPMC12403135 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature