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Unique DNA methylation signature may not specifically characterize BLBS across distinct genetic variants

ABSTRACT: Bryant-Li-Bhoj syndrome (BLBS) is a mixed neurodevelopmental/neurodegenerative syndrome caused by germline variants in the genes encoding Histone 3.3 (H3.3). Here, we assess DNA methylation differences between BLBS patient-derived and unaffected control tissues (dermal fibroblasts and blood samples) using the Illumina EPICv2 methylation microarray. Our 8 dermal fibroblast samples and 12 blood samples represent 19 of the 70 unique causative BLBS variants. After multiple testing correction, no CpG probes showed statistically significant methylation differences in either of these tissues. The lack of significant DNA methylation changes identified at this time in BLBS supports evaluation of other causes of dysregulation, as well as re-evaluation for more subtle methylation changes when more samples become available.

ORGANISM(S): Homo sapiens

PROVIDER: GSE281737 | GEO | 2025/11/20

REPOSITORIES: GEO

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