DNA METHYLATION MARKERS FOR OVERGROWTH SYNDROMES

摘要

The present disclosure provides epigenetic signatures, comprising genomic CpG dinucleotide sequences, genes, and/or genomic regions, which are differentially methylated in individuals with Sotos syndrome relative to non-Sotos syndrome controls, and their use in methods and kits for detecting and/or screening for Sotos syndrome, or the likelihood of Sotos syndrome. The present disclosure also provides epigenetic signatures, comprising genomic CpG dinucleotide sequences, genes, and/or genomic regions, which are differentially methylated in individuals with Weaver syndrome relative to non-Weaver syndrome controls, and their use in methods and kits for detecting and/or screening for Weaver syndrome, or the likelihood of Weaver syndrome.