The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Borjeson-Forssman-Lehmann and White-Kernohan syndromes.

ABSTRACT: Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for Chung-Jansen syndrome. In addition, we observed similarities between the methylation profile of Chung-Jansen syndrome and that of functionally related and

SUBMITTER: Vos N 

PROVIDER: S-EPMC11186873 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature