Table 1.
Summary of epivariants and underlying DNA sequence alterations identified in this study
| Location | Gene | Direction | Underlying DNA sequence alteration | Inheritance | Probands (n) |
|---|---|---|---|---|---|
| chr13 | chr13:multiple | Hyper | X;13 translocation (p) | de novo | 1 |
| Xp22 | BCLAF3 | Hyper | CGG repeat (c) | de novo | 1 |
| 22q13 | CSNK1E | Hyper | CGG repeat (c) | Inherited | 2 + 1 match |
| 12q13 | DIP2B | Hyper | CGG repeat (c) | Inherited | 1 |
| 16p11.2 | STX1B | Hyper | Deletion (p) | Inherited | 1 + 3 family |
| 2p16 | CFAP36/CCDC104 | Hyper | Tandem duplication (b) | Inherited | 1 |
| 2q37.3 | chr2:multiple | Hypo | Deletion (b) | Inherited | 1 |
| 15q24 | LINGO1 | Hypo | Deletion (b) | Inherited | 4 |
List of epivariation findings from screening cohort with uDEEs for rare outlier DNA methylation changes. Molecular findings are considered p=pathogenic, c=candidate, and b=benign.