ArticleFrontiers in genetics2026
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Neurodevelopmental disorders (NDDs) are genetically heterogeneous, and standard genomic testing frequently yields variants of uncertain significance (VUS) or misses cryptic structural variants. Episignature analysis, which detects disorder specific genome-wide DNA methylation patterns, has emerged as a functional tool to resolve diagnostic uncertainty. Case presentation: We report a 7-year-old female with global developmental delay, autism spectrum disorder, epilepsy, microcephaly, and a distinctive facial gestalt. Initial trio whole-exome sequencing identified inconclusive VUSs in Conclusion: This case highlights the utility of episignature analysis to help diagnose NDD patients, guide further molecular diagnostic testing, and as a functional assay to aid variant reclassification. Integration of epigenomic profiling with standard of care testing can shorten the diagnostic odyssey, prevent unnecessary interventions, and directly inform clinical management in patients with unresolved NDDs.
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