In other cases, the CNV analyzed caused the loss or gain of a single dosage-sensitive gene, revealing a DNAm profile specific for the disease-associated gene in question: e.g., the 5q35 deletion associated with Sotos syndrome involving NSD1, the 5q35 duplication associated with Hunter-McAlpine craniosynostosis syndrome (NSD1), and the 4p16.13 deletion associated with Wolf-Hirschhorn syndrome (NSD2). The gene discussed is NSD2; the disease is Hunter-McAlpine craniosynostosis.