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. 2025 Jun 15;108(3):369-370.
doi: 10.1111/cge.70000. Online ahead of print.

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

Mathis Hildonen  1 , Marco Ferilli  2 , Ilona Krey  3 , Oona Kohnen  4 , Camilla Cappelletti  2 , Konrad Platzer  3 , Andrea Ciolfi  2 , Rami Abou Jamra  3 , Marco Tartaglia  2 , Zeynep Tümer  1
Affiliations

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

Mathis Hildonen et al. Clin Genet. .

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.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
(A) Exclusion of ZNF142‐related disorder. The patient (orange dot) clusters with the control samples (green dots), while the individuals with biallelic ZNF142 LoF variants cluster separately (red). (B) DNAm levels at the SNRPN/SNURF loci located within the AS‐associated region, chr15q11.2‐q13. The proband's DNAm level (red line) is markedly lower than those of the controls (dotted lines). Yellow line, the mean methylation of controls.
See this image and copyright information in PMC

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References

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