Mutation | Donors (cases/controls) | Isogenic (yes/no) | Class of observed “phenotypic classes” (G, R, E, S, C) | References |
---|---|---|---|---|
15q13.3 | 6/3 | No | E, C | Gillentine et al. [159] |
16p11.2 | 6/3 | No | G, E, S | Deshpande et al. [79] |
22q11.2 | 8/7 | No | G | Lin et al. [160] |
CACNA1C | 2/2 | No | E | Krey et al. [98] |
CACNA1C | 2/3 | No | C | Pasca et al. [161] |
CDK5RAP2 | 4/4 | Yes | G | Lancaster [60] |
CHD8 | 2/4 | Yes | G | Wang et al. [162] |
DYRK1A | 105 patients | No | G | Courcet et al. [77] |
FMR1 | 3/1 | No | E | Doers et al. [97] |
FMR1 | 1/1 | Yes | R | Lu et al. [92] |
FMR1 | 2/2 | Yes | R | Sunamura et al. [90] |
MECP2 | 2/1 | No | E | Nageshappa [95] |
Multiple genes | 15/11 (53 lines) | Yes | E | Deneault et al. [104] |
Multiple genes | 1/1 per gene | Yes | C | Deneault et al. [101] |
NLGN4 | 2/1 | Yes | E, S | Marro et al. [163] |
NRXN1 | 3/5 | No | E, C | Avazzadeh et al. [106] |
NRXN1 | 4/4 | Yes | E, S | Flaherty et al. [164] |
NRXN1 | 1/4 | No | G, E, C | Lam et al. [165] |
NRXN1 | 2/1 | Yes | E | Pak et al. [102] |
PTCHD1-AS | 2/2 | Yes | G, E, S | Ross et al. [103] |
SHANK2 | 2/4 | Yes | G, E, S | Zaslavsky et al. [100] |
SHANK3 | 4/3 | No | S | Gouder et al. [166] |
SHANK3 | 1/1 | Yes | E, S | Huang et al. [167] |
SHANK3 | 2/3 | Yes | S | Kathuria et al. [168] |
SHANK3 | 1/1 | Yes | E | Yi et al. [96] |
UBE3A | 3/4 | Yes | E | Fink et al. [169] |
UBE3A | 1/1 | Yes | E | Sun et al. [170] |
Idiopathic | 7/6 | No | G | Courchesne et al. [73] |
Idiopathic | 5/5 | No | E, C | DeRosa et al. [107] |
Idiopathic | 6/6 | No | R | Griesi-Oliveira et al. [83] |
Idiopathic | 1 family | No | G | Lewis et al. [171] |
Idiopathic | 3/3 | No | E, S | Liu et al. [172] |
Idiopathic | 8/5 | No | G, E, S | Marchetto et al. [69] |
Idiopathic | 4/8 | No | G, E, S | Mariani et al. [145] |
Idiopathic | 3/3 | No | G, S | Moore et al. [173] |
Idiopathic | 3/3 | No | G, E, S | Russo et al. [152] |
Idiopathic | 8/5 | No | S | Schafer et al. [174] |
Idiopathic | 3/3 | No | G | Wang et al. [80] |
Idiopathic/PTEN | 3/15 | No | G | Butler et al. [76] |