Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling

Mathis Hildonen; Marco Ferilli; Ilona Krey; Oona Kohnen; Camilla Cappelletti; Konrad Platzer; Andrea Ciolfi; Rami Abou Jamra; Marco Tartaglia; Zeynep Tümer

doi:10.1111/cge.70000

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling

Clin Genet. 2025 Jun 15. doi: 10.1111/cge.70000. Online ahead of print.

Authors

Affiliations

¹ Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
² Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
³ Institute of Human Genetics, University of Leipzig Medical Center, Germany.
⁴ Swiss Epilepsy Center, Clinic Lengg AG, Zürich, Switzerland.

PMID: 40518603
DOI: 10.1111/cge.70000

Abstract

Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).

Keywords: Angelman syndrome; DNAm signature; array; epigenetic; episignature; methylation; undiagnosed.

Abstract

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