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Copy-number variation (CNV) at the 7q11.23 locus results in two distinct neurodevelopmental disorders: deletions give rise to Williams syndrome (WS), whereas the reciprocal CNV causes 7q11.23 duplication syndrome (Dup7). Because the same genes are altered in each, the study of these two disorders can provide insight into the ways in which gene dosage influences human development. In this issue, Strong et al. question whether DNA-methylation changes occur in children with WS and Dup7. Their analyses identified genome-wide, dose-dependent alterations in DNA methylation in both groups of children.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors' Corner Source Type: research