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_197675831 (147) | del:3q29 (45), (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 behaviour (150), (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_84226064 (57) del:83680969_83943977 (158) | del:84032216_84276593 (157) dup:83108466_83378706 (159) | — | — | Kirov et al. (57) Cuscó et al. (157) Walsh et al. (158) Egger et al. (159) |
| DLG4 | — | dup:17p13.1_p13.2 (153), (160) | — | — | Levy et al. (153) Sanders et al. (160) |
| DLGAP2 | dup:1436299_1642837 (40) | dup:704383_1521910 (60), (147) del:1130900_6780950 (162) | del:8p23.3 (161), (163)– (165) | Duplication of 1436299_1642837 has been associated with intellectual disability (40) Deletion of 8p23.3 has been associated with intellectual disability (161) | 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_55871709 (130) del:19q13.33 (166) | — | Deletion of 55872189_55935995 has been associated with impaired social communication skills, repetitive behaviours and higher functioning (130) Deletion of 55808307_55871709 has been associated with developmental abnormalities and disrupted social skills (130) | Sato et al. (130) Prasad et al. (166) |
| SHANK2 | — | del:70154458_70220632 (60) del:70077507_70506315, del:70119917_70187872, del: 70154458_70220632 (147) del:70220882_70154208 (133) dup:70520567_71017315 (167) del:70332092(2)CTG > C (59) | — | Deletion of 70154458_70220632, 70077507_70506315 and 70119917_70187872 has been associated with language delay (60), (147) Deletion of 70220882_70154208, 70077507_70506315 and 70119917_70187872 has been associated with intellectual disability (133), (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/del (142) del:c.3259 (168) 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_49582267 (169) del:45159185_49582267, del:47996161_49512530, del:49468716_49485255, del:49470371_49567383, del:49470371_49480446 (147) | del:22q13.3 (40), (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 interaction (140) Deletion of 45159185_49582267 has been associated with intellectual disability, hyperactivity, attention deficits and agressiveness (147) Deletion of 47996161_49512530 has been associated with severe intellectual disability and cortical atrophy (147) Deletion of 49470371_49567383 and 49470371_49480446 have been associated with language delay (147) | 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_78797532 (167) | — | — | — | Gai et al. (167) |
del = deletion; dup = duplication.