Table 1.
Driver mutations of chromatin modifying enzymes in intellectual disability disorders
| Gene | Gene OMIM | Syndrome | OMIM | Gene Function |
|---|---|---|---|---|
| CBP | 600140 | Menke-Hennekam syndrome 1/Rubinstein-Taybi syndrome 1 | 618332/180849 | Histone acetyltransferase |
| P300 | 602700 | Menke-Hennekam syndrome 2/ Rubinstein-Taybi syndrome 2 | 618333/613684 | Histone acetyltransferase |
| KAT6A | 601408 | Arboleda-Tham syndrome | 616268 | Histone acetyltransferase |
| KAT6B | 602303 | Say-Barber-Biesecker-Young-Simpson / Genitopatellar syndrome | 603736 / 606170 | Histone acetyltransferase |
| BRPF1 | 602410 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | Histone acetyltransferase complex subunit |
| KANSU | 612452 | Koolen-De Vries syndrome | 610443 | Histone acetyltransferase complex subunit |
| HDAC2 | 605164 | Cornelia de Lange syndrome | n/a | Histone deacetylase |
| HDAC4 | 605314 | Brachydactyly mental retardation | 600430 | Histone deacetylase |
| HDAC6 | 300272 | X-linked dominant Chondrodysplasia | 300863 | Histone deacetylase |
| HDAC8 | 300269 | Cornelia de Lange syndrome 5 | 300882 | Histone deacetylase |
| KMT2A | 159555 | Wiedemann-Steiner syndrome | 605130 | Histone lysine methytransferase |
| KMT2B | 606834 | Dystonia 28, childhood-onset | 617284 | Histone lysine methytransferase |
| KMT2C | 606833 | Kleefstra syndrome 2 | 617768 | Histone lysine methytransferase |
| KMT2D | 602113 | Kabuki syndrome 1 | 147920 | Histone lysine methytransferase |
| KMT2E | 608444 | O’Donnell-Luria-Rodan syndrome | 618512 | Histone lysine methytransferase |
| SETD1A | 611052 | Neurodevelopmental disorder with speech impairment and dysmorphic facies / Eariy-onset Epilepsy | 619056 / 618832 | Histone lysine methytransferase |
| SETD1B | 611055 | Intellectual developmental disorder with seizures and language delay | 619000 | Histone lysine methytransferase |
| EHMT1 | 607001 | Kleefstra syndrome 1 | 610253 | Histone lysine methytransferase |
| NSD1 | 606681 | Sotos syndrome 1 | 117550 | Histone lysine methytransferase |
| NSD2 | 602952 | Wolf-Hirschhom syndrome | 194190 | Histone lysine methytransferase |
| SETD2 | 612778 | Luscan-Lumish syndrome | 616831 | Histone lysine methytransferase |
| SETD5 | 615743 | Mental retardation, autosomal dominant 23 | 615761 | Histone lysine methytransferase |
| EZH2 | 601573 | Weaver syndrome | 277590 | Histone lysine methytransferase |
| SUZ12 | 606245 | Imagawa-Matsumoto syndrome | 618786 | PRC2 subunit |
| EED | 605984 | Cohen-Gibson syndrome | 617561 | PRC2 subunit |
| KDM1A | 609132 | Cleft palate, psychomotor retardation, and distinctive facial features | 616728 | Histone lysine demethylase |
| KDM5B | 605393 | Mental retardation, autosomal recessive 65 | 618109 | Histone lysine demethylase |
| KDM5C | 314690 | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 | Histone lysine demethylase |
| KDM6A | 300128 | Kabuki syndrome 2 | 300867 | Histone lysine demethylase |
| PHF8 | 300560 | Mental retardation syndrome, X-linked, Siderius type | 300263 | Histone lysine demethylase |
| CHD1 | 602118 | Pilarowski-Bjomsson syndrome | 617682 | ATP-dependent Chromatin remodeler |
| CHD2 | 602119 | Childhood-onset Epileptic Encephalopathy | 615369 | ATP-dependent Chromatin remodeler |
| CHD3 | 602120 | Snijders Blok-Campeau syndrome | 618205 | ATP-dependent Chromatin remodeler |
| CHD4 | 603277 | Sifrim-Hitz-Weiss syndrome | 617159 | ATP-dependent Chromatin remodeler |
| CHD7 | 608892 | CHARGE syndrome | 214800 | ATP-dependent Chromatin remodeler |
| ARIDIb | 614556 | Coffin-Siris syndrome 1 | 135900 | ATP-dependent Chromatin remodeler |
| ARIDIa | 603024 | Coffin-Siris syndrome 2 | 614607 | BAF subunit |
| BAF47 | 601607 | Coffin-Siris syndrome 3 | 614608 | BAF subunit |
| BRG1 | 603254 | Coffin-Siris syndrome 4 | 614609 | ATP-dependent Chromatin remodeler |
| BAF57 | 603111 | Coffin-Siris syndrome 5 | 616938 | BAF subunit |
| ARID2 | 609539 | Coffin-Siris syndrome 6 | 617808 | BAF subunit |
| DPF2 | 601671 | Coffin-Siris syndrome 7 | 618027 | BAF subunit |
| BAF60A | 601735 | Coffin-Siris syndrome 11 | 618779 | BAF subunit |
| BRM | 600014 | Nicolaides-Baraitser syndrome | 601358 | BAF subunit |
| BAF53b | 612458 | IDD with severe speech and ambulation defects / Developmental and epileptic encephalopathy 76 | 618470 / 618468 | BAF subunit |
| ACTL6A | 604958 | n/a | n/a | BAF subunit |
| BPTF | 601819 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 617755 | Chromatin remodeller |
| HIST1H1E | 142220 | Rahman syndrome | 817537 | Linker Histone |
| HIST1H4C | 602827 | unclassified | n/a | Canonical histone |
| HIST1H4J | 602826 | unclassified | n/a | Canonical histone |
| H3F3A | 601128 | Unclassified | n/a | Histone variant |
| H3F3B | 601058 | Unclassified | n/a | Histone variant |