Table 2.
Developmental disorders with affected iDMRs
| Disorder | Gene(s) involved | Category | Patients number | Affected iDMRs |
|---|---|---|---|---|
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) | DNMT1 | DNA methyltransferase | 5 | IGF2:Ex9 |
| Coffin–Siris syndrome 4 (CSS4_c.2650) | SMARCA4 | Chromatin remodeler | 3 | WDR27:Int13 |
| Down Syndrome (DS) |
HMGN1 MIS18A AIRE USP16 PRMT2 DNMT3L RBM11 CHAF1B BRWD1 |
Chromatin remodeler Chromatin remodeler Transcription factor Histone ubiquitination Histone methyltransferase DNA methyltransferase Alternative splicing Chromatin remodeler Histone reader |
40 | IGF1R:Int2 NNAT:TSS |
| Floating-Harbour syndrome (FLHS) | SRCAP | Chromatin remodeler | 21 | IGF1R:Int2 NNAT:TSS |
| Genitopatellar syndrome (GTPTS) | KAT6B | Histone acetyltransferase | 4 | VTRNA2-1 |
| Helsmoortel–Van der Aa syndrome (ADNP syndrome (Central) (HVDAS_C) | ADNP | Transcription factor | 14 | PPIEL:Ex1 |
| Helsmoortel–Van der Aa syndrome (ADNP syndrome (Terminal) (HVDAS_T) | ADNP | Transcription factor | 21 | PPIEL:Ex1 |
| Hunter–McAlpine craniosynostosis syndrome (HMA) |
NPM1 UIMC NSD1 |
Histone chaperone Histone reader Histone methyltransferase |
8 | SNRPN:Int1-DMR2 |
| Immunodeficiency, centromeric instability, facial anomalies syndrome 1 (ICF1) | DNMT3B | DNA methyltransferase | 8 | DIRAS3:Ex2 HTR5A:TSS IGF1R:Int2 MAGEL2:TSS MKRN3:TSS NDN:TSS SNRPN:alt-TSS SNRPN:Int1-DMR2 ZNF597:TSS |
| Immunodeficiency, centromeric instability, facial anomalies syndrome 2,3,4 (ICF2-3-4) |
ZBTB24, CDCA7, HELLS |
Transcription factor and chromatin remodelers | 7 |
MKRN3:TSS NDN:TSS SNRPN:alt-TSS SNRPN:Int1-DMR1 SNRPN:Int1-DMR2 |
| Intellectual developmental disorder, X-linked, syndromic, Snyder–Robinson type (MRXSSR) | SMS | Enzyme | 17 | VTRNA2-1 |
| Luscan–Lumish syndrome (LLS) | SETD2 | Histone methyltransferase | 4 | INPP5F:Int2 NNAT:TSS PPIEL:Ex1 |
| Rahman syndrome (RMNS) | HIST1H1E | Linker histone | 9 | NNAT:TSS |
| Tatton–Brown–Rahman syndrome (TBRS) | DNMT3A | DNA methyltransferase | 30 | NNAT:TSS |
| Williams–Beuren deletion syndrome (Williams) |
BAZ1B GTF2I |
Histone phosphorylation Transcription factor |
22 | IGF1R:Int2 |