Table 4.
Genetic abnormalities identified among 710 patients with OGID syndromes.
| Gene family Variant gene | Proportion of total patients | Associated condition | MIM | Inheritance |
|---|---|---|---|---|
| Epigenetic regulator genes | ||||
| NSD1 | 240 cases, 34% | Sotos syndrome | 117550 | AD |
| EZH2 | 34 cases, 4.8% | Weaver syndrome | 277590 | AD |
| DNMT3A | 18 cases, 2.5% | Tatton-Brown–Rahman syndrome | 615879 | AD |
| CHD8 | 12 cases, 1/7% | Autism susceptibility | 615032 | AD |
| HIST1H1E | 5 cases, 0.7% | Rahman syndrome | 617537 | AD |
| EED | 2 cases, 0.3% | Cohen Gibson syndrome | 617561 | AD |
| PI3K/mTOR pathway genes | ||||
| PTEN | 16 cases, 2.3% | PTEN hamartoma tumor syndrome | 158350 | AD |
| PPP2R5D | 3 cases, 0.4% | Mental retardation | 616355 | AD |
| MTOR | 2 cases, 0.3% | Smith-Kingsman syndrome | 616638 | AD |
| AKT3 | 1 case, 0.1% | Megalencephaly-polymicrogyria-polydactyl-hydrocephalus syndrome 2 | 615937 | AD |
| PIK3CA | 1 case, 0.1% | PIK3CA-related overgrowth syndrome | Multiple | Unknown |
| Undetermined pathway genes | ||||
| NFIX | 14 cases, 2.0% | Marshall-Smith syndrome | 602535 | AD |
| BRWD3 | 7 cases, 1.0% | X-linked mental retardation | 300659 | XLR |
| GPC3 | 2 cases, 0.3% | Simpson-Golabi-Behmel syndrome | 312870 | XLR |
AD, autosomal dominant; XLR, X-linked recessive; MIM, Mendelian inheritance in man coding (http://www.omim.org); adapted from information in Tatton-Brown et al. (91).