Copy number variants in scaffolding genes associated with schizophrenia, autism-spectrum disorders and other clinical phenotypes of interest
| Gene | Copy number variants | Sources | |||
|---|---|---|---|---|---|
| Schizophrenia | Autism-spectrum disorders | Schizophrenia and autism-spectrum disorders | Other associated phenotypes | ||
| DLG1 | — | del:195971510_197675831147 | del:3q2945,50,57,148–156 | Deletion of 3q29 has been associated with intellectual disability,148,149,154–156 developmental delay,152 impaired social skills and repetitive behaviour150,152 | Sanders et al.45 Purcell et al.50 Kirov et al.57 Pinto et al.147 Levinson et al.148 Mulle et al.149 Magri et al.150 Szatkiewicz et al.151 Quintero-Rivera et al.152 Levy et al.153 Willatt et al.154 Ballif et al.155 Sagar et al.156 |
| DLG2 | del:83472750_83842973 del:84006106_8422606457 del:83680969_83943977158 | del:84032216_84276593157 dup:83108466_83378706159 | — | — | Kirov et al.57 Cuscó et al.157 Walsh et al.158 Egger et al.159 |
| DLG4 | — | dup:17p13.1_p13.2153,160 | — | — | Levy et al.153 Sanders et al.160 |
| DLGAP2 | dup:1436299_164283740 | dup:704383_152191060,147 del:1130900_6780950162 | del:8p23.3161,163–165 | Duplication of 1436299_1642837 has been associated with intellectual disability40 Deletion of 8p23.3 has been associated with intellectual disability161 | Guilmatre et al.40 Pinto et al.60 Pinto et al.147 Chien et al.161 Szatmari et al.162 Costain et al.163 Marshall et al.164 Ozgen et al.165 |
| SHANK1 | — | del:55872189_55935995, del:55808307_55871709130 del:19q13.33166 | — | Deletion of 55872189_55935995 has been associated with impaired social communication skills, repetitive behaviours and higher functioning130 Deletion of 55808307_55871709 has been associated with developmental abnormalities and disrupted social skills130 | Sato et al.130 Prasad et al.166 |
| SHANK2 | — | del:70154458_7022063260 del:70077507_70506315, del:70119917_70187872, del: 70154458_70220632147 del:70220882_70154208133 dup:70520567_71017315167 del:70332092(2)CTG > C59 | — | Deletion of 70154458_70220632, 70077507_70506315 and 70119917_70187872 has been associated with language delay60,147 Deletion of 70220882_70154208, 70077507_70506315 and 70119917_70187872 has been associated with intellectual disability133,147 | Iossifov et al.59 Pinto et al.60 Berkel et al.133 Pinto et al.147 Gai et al.167 |
| SHANK3 | — | del:c.1320_1338, dup:c.1497+910bp/ins, del:c.1497+910bp/del142 del:c.3259168 del:48927548_51224208, del:48444959_51224208, del:49114430_51224208, del:44321641_51224208, del:46143471_51224208, del:44427703_51224208, del:46905533_51224208, del:49028732_51224208, del:49028732_51224208, del:43745129_51224208, del:50267252_51224208, del:45902119_51224208, del:42918711_51224208, del:45583935_51224208, del:48551989_51206201, del:51083118_51224208, del:45428606_51224208, del:44800014_51224208, del:44023173_51224208, del:43218614_51224208, del:46787434_51224208, del:49460840_51224208, del:51115526_51234443, del:45705241_51224208, del:49004395_51224208, del:42822943_51224208118, del:45159185_49582267169 del:45159185_49582267, del:47996161_49512530, del:49468716_49485255, del:49470371_49567383, del:49470371_49480446147 | del:22q13.340,60,136,137,141,164,170–174 | Deletion of 22q13.3 has been associated with intellectual disability, language alteration,60,137,139,170,174 developmental delay and impaired social interaction140 Deletion of 45159185_49582267 has been associated with intellectual disability, hyperactivity, attention deficits and agressiveness147 Deletion of 47996161_49512530 has been associated with severe intellectual disability and cortical atrophy147 Deletion of 49470371_49567383 and 49470371_49480446 have been associated with language delay147 | Guilmatre et al.40 Pinto et al.60 Durand et al.136 Boccuto et al.137 Gauthier et al.139 Moessner et al.141 Waga et al.142 Pinto et al.147 Marshall et al.164 Nemirovsky et al.168 Yuen et al.169 Failla et al.170 Crespi et al.171 Sebat et al.172 Wang et al.173 Bonaglia et al.174 |
| HOMER1 | dup:78375511_78797532167 | — | — | — | Gai et al.167 |
del = deletion; dup = duplication.