Genetic linkage (Lk)

Microarray analysis (CMA)

Gene-locus

Association (A)

Gene sequence (M)

Gene expression (E)

p [46]

p36- [49] p34.2- [50]

p33 MTF1 [55]

1

q21.1 [47]

q21.1 ± RBM8A [51] [52]

q23q24.2 [48]

q23.3q24.2-(t) [53]

q41q42 ± [54]

p [56]

p15p16.3- NRXN1 [58] [59]

p16.3 NRXN1t [70]

p13 RAB11FIP5t [71]

q21q23 -/- SCN7A [60]

2

q [57]

q23.1 ± EPC2 [61]

q24q33 STK39 [66]

q24.2 SLC4A10t [72]

q24 SLC25A12 [67]

q24.3 SCN1Am [73]

q32 [57]

q34q35- MAP2 [62]

q31q32 ITGA4 [68] DLX1/2 [69]

q31.1 RAPGEF4m [74]

q31 GAD1 [76]

q35-PAX3 [63] q37 [64] [65]

q37.3 CENTG2m [75]

q34q35 MAP2 [62]

p26.2- OXTR [77]

p26 ± CNTN4 [78] p24- [79]

p26.2OXTRm [77]

p26.2 OXTR [83]

3

p14.2 ± FHIT [4]

p26p25 CNTN4t [81]

q24 -/-SLC9A9, DIA1 [60]

q21q22 MBD4m [82]

q25q27 [46]

q29- PAK2 DLG1 [80]

4

p12 GABRA2 GABRA4 [84]

q28.3 -/- PCDH10 [84]

q21q25 EIF4Et [85]

p15.2- [79]

p13- NIPBL SLC1A3 [87]

p15.2p14.1 SEMA5A [91]

CDH9, CDH10 [92] SLC6A3 [93]

p13p15 SEMA5A [91]

SLC1A3 [95]

5

q [86]

q14q21- RASA1, MEF2C [88]

q22.2 APC [86]

q12 PDE4D [96]

q35.2/.3 ± NSD1 [89] [90]

q31 PITX1 [94]

q33 AMPA1 [95]

q34q35.1 GABRB2 [84]

q34q35 GABRA1 [84]

p23- [4] p21.3 -/- RNF8 [4]

p21.3p21.2 GLO1 [97]

6

q21 [56]

q15 GABRR2 [84]

q16.3 GRIK2 [98]

q21q23.2 GJA1 [99]

p22.1+/t ACTB [104] [105]

p15.3 HOXA1* [109]

p21.1- MACC1 [4]

q21.13 [60]

q11- [106] q11.23+ [62]

q22 RELN [110]

q11.2 KIAA0442t [116]

q22 RELN [121]

7

q22 [100]

q21q22.3- [107]

q31 FOXP2* [111] MET [112]

q31 METm [117]

q22q32 [101]

q31-t [108]

q35q36 CNTNAP2 [113]

q31.3 CADPS2m [118]

q31.32 [100]

q36 EN2 [114]

q31.1q31.3 ST7t [119]