Abstract

BackgroundNicolaides–Baraitser syndrome (NCBRS) is a rare disorder characterized by neurodevelopmental delays, seizures, and diverse physical characteristics. The DNA methylation (DNAm) profile in NCBRS is significantly different. DNAm is linked to the biological aging of cells and the health risks associated with biological aging. In this study, we examined changes in biological ages in NCBRS to provide insights into the prognosis and health risks of NCBRS.MethodsWe used a publicly available dataset to examine biological aging in NCBRS using DNAm‐based epigenetic ages, such as PhenoAge and GrimAge, as well as DNAm‐based estimator of telomere length (DNAmTL). We investigated 12 cases, clinically diagnosed as NCBRS, and 27 controls.ResultsCompared to controls, NCBRS cases exhibited significantly accelerated PhenoAge and GrimAge as well as significantly shortened DNAmTL.ConclusionThese results suggest an acceleration of biological aging in NCBRS and provide insights into the prognosis and health risks of NCBRS.

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