Table 1.
Twelve recurrently affected cardiac developmental expressed genes with MDRVs identified in CTD cases (and none in controls) in individuals with 22q11.2DS.
| Gene | Full Name | Number of MDRVs | Genetic syndrome or disease | MIM ID | CHD present | Inheritance mode | CTD cases |
|---|---|---|---|---|---|---|---|
| EP400 | E1A-binding protein, 400-kd | 1 | 2 | ||||
| KAT6A | Lysine acetyltransferase 6A | 2 | Arboleda-Tham Syndrome | 601408 | Yes | AD | 2 |
| KMT2C | Lysine-specific methyltransferase 2C | 2 | Kleefstra syndrome 2 | 606833 | Yes | AD | 2 |
| KMT2D | Lysine-specific methyltransferase 2D | 2 | Kabuki Syndrome | 602113 | Yes | AD | 2 |
| NSD1 | Nuclear receptor-binding set domain protein 1 | 2 | Sotos Syndrome | 606681 | Yes | AD | 2 |
| PHF21A | PHD finger protein 21A | 2 | Potocki-Shaffer syndrome | 608325 | Occasional | AD | 2 |
| CACNA1D | Calcium channel, voltage-dependent, L type, alpha-1D subunit | 3 | Primary aldosteronism, seizures and neurologic abnormalities; PASNA | 615474 | AD | 3 | |
| CHERP | Calcium homeostasis endoplasmic reticulum protein | 2 | 2 | ||||
| FBLN2 | Fibulin 2 | 2 | Atrioventricular septal defect, susceptibility to; AVSD2 | 606217 | Yes | Complex | 3 |
| GTPBP4 | GTP-binding protein 4 | 1 | 2 | ||||
| RBMX | RNA-binding motif protein, X chromosome | 1 | X-linked intellectual disability | 300199 | X-linked | 2 | |
| WASL | WASP-like actin nucleation-promoting factor | 2 | 2 | ||||
| non- duplicated | 24 | 26 |
Genes are listed alphabetically among the six chromatin genes in bold font. Of note, KMT2C is also affected in one ASD patient and one VSD patient, with no other heart or aortic arch defects; both carrying same variant rs145848316 as described in Table 2. MDRV most damaging rare variants. AD Autosomal dominant.