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Table 3.   Recurrent CNVs and clinical features in ASD, SZ and MR patients

Table 3a
Patients ID CNV Last outer margin (bp) First inner margin (bp) Last inner margin (bp) First outer margin (bp) genes involved type Confirmation transmission
diagnosis chromosomal location Size
113 SZ Xp11.4 56 kb 38,326,267 38,376,483 38,432,836 38,549,143 TSPAN7 dup QMPSF, a-CGH unknown
313 SZ 8p23 110 kb 1,436,299 1,481,035 1,590,831 1,642,837 DLGAP2 dup QMPSF, a-CGH unknown
185 SZ 15q13 994 kb 26,999,744 27,000,694 27,994,706 28,109,371 APBA2, TJP1, NDNL2 dup QMPSF, a-CCH unknown
144.1 SZ AFF 22q11 350 kb PRODH, DGCR6 del QMPSF unknown*
223 SZ 2p16.3 107 kb 50,704,195 51,006,556 51,114,057 51,433,167 NRXN1alpha exons 1,2 del QMPSF, a-CGH unknown
220 SZ 2p16.3 <532 kb 50,172,024 50,420,164 50,420,164 50,704,195 NRXN1alpha/beta del QMPSF, a-CGH unknown
33 SZ 16p11 500 kb DOC2A and 24 genes dup QMPSF maternally inherited**
136 SZ 16p11 500 kb DOC2A and 24 genes dup QMPSF de novo
146 SZ AFF 16p11 500 kb DOC2A and 24 genes dup QMPSF unknown
151 SZ 17q21 627 kb 40,869,151 41,073,486 41,700,762 42,143,048 MAPT and 2 genes dup QMPSF, a-CGH unknown
T 35 autism 2p16.3 <427 kb 51,006,556 51,114,057 51,114,057 51,433,167 NRXN1alpha exons 1,2 del QMPSF, a-CGH, FISH paternally inherited
45431 autism 2p16.3 107 kb 50,704,195 51,006,556 51,114,057 51,433,167 NRXN1alpha exons 1,2 del QMPSF, a-CGH maternally inherited
47604 autism 22q13 2,26 Mb 47,124,905 47,265,476 49,525,071 --------------- SHANK3 and 28 genes del QMPSF, a-CGH de novo
Si22 autism 22q13 ND SHANK3 del QMPSF, MLPA de novo
60478 autism 15q11-q13 4 Mb GABRA5, GABRB3, GABRG3 and 17 genes dup QMPSF, FISH de novo
T 34 autism Xq25 1,42 Mb 120,669,107 120,746,477 122,166,142 122,316,448 GRIA3 exons 1-4 dup QMPSF, a-CGH, FISH maternally inherited
12746 HFA 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
12452 autism 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
13899 autism 22q11 350 kb PRODH, DGCR6 del QMPSF unknown
44737 autism 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
45435 autism 22q11 350 kb PRODH, DGCR6 del QMPSF unknown
45856 autism 22q11 350 kb PRODH, DGCR6 del QMPSF maternally inherited
46261 autism 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
47766 autism 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
Si30 autism 22q11 350 kb PRODH, DGCR6 del QMPSF maternally inherited
44813 HFA 15q13 3,8 Mb 26,198,996 26,999,744 30,796,716 30,812,300 APBA2, CHRNA7 and 16 genes dup QMPSF, a-CGH maternally inherited
12363 MR 22q11 350 kb PRODH, DGCR6 del QMPSF maternally inherited
11780 MR 22q11 350 kb PRODH, DGCR6 del QMPSF paternally inherited
9680 MR 22q11 350 kb PRODH, DGCR6 del QMPSF maternally inherited
14684 MR 22q11 350 kb PRODH, DGCR6 del QMPSF maternally inherited
11695 MR 2p16.3 <427 kb 51,006,556 51,114,057 51,114,057 51,433,167 NRXN1alpha exon 1 del QMPSF, a-CGH maternally inherited****
14921 MR 16p11 500 kb DOC2A and 24 genes del QMPSF, FISH de novo
10417 MR 16p11 500 kb DOC2A and 24 genes del QMPSF, FISH maternally inherited
13165 MR 16p11 500 kb DOC2A and 24 genes dup QMPSF, FISH maternally inherited
14390 MR 16p11 500 kb DOC2A and 24 genes del QMPSF, FISH de novo***
13907 MR 15q13 1,57 Mb 28,109,371 28,725,507 30,298,096 30,701,373 CHRNA7 and 5 genes del QMPSF, a-CGH unknown
11919 MR 15q13 1,57 Mb 28,109,371 28,725,507 30,298,096 30,701,373 CHRNA7 and 5 genes del QMPSF, a-CGH unknown
9930 MR 15q13 1,57 Mb 28,109,371 28,725,507 30,298,096 30,701,373 CHRNA7 and 5 genes del QMPSF, a-CGH de novo
12988 MR 8p23 3 Mb DLGAP2 and 23 genes del QMPSF, HRK de novo
Table 3b
Patients ID diagnosis sex age (y) family history CNV Clinical features
Cognitive features Associated features
113 SZ M 52 sporadic dup(Xp11.4) IQ, 105
313 SZ M 32 familial dup(8p23) IQ, 67 D
185 SZ M 48 sporadic dup(15q13) IQ, 73
144.1 SZ AFF F 42 familial del(22q11) IQ, 48
223 SZ M 38 sporadic del(2p16.3) IQ, 94
220 SZ M 25 unknown del(2p16.3) NA
33 SZ F 53 familial dup(16p11) IQ, 56
136 SZ F 41 sporadic dup(16p11) IQ, 75
146 SZ AFF M 32 familial dup(16p11) IQ, 95
151 SZ M 53 sporadic dup(17q21) IQ, 90
T 35 autism F 38 sporadic del(2p16.3) IQ, 66
45431 autism M 10 sporadic del(2p16.3) NA
47604 autism M 8 sporadic del(22q13) IQ<40
Si22 autism M 9 sporadic del(22q13) IQ<40 D, E
60478 autism M 15 sporadic dup(15q11-q13) IQ<40 E
T 34 autism M 10 sporadic dup(Xq25) NA
12746 HFA M 6 sporadic del(22q11) IQ, 74
12452 autism F 8 sporadic del(22q11) IQ<40
13899 autism M 11 sporadic del(22q11) IQ<40
44737 autism M 7 sporadic del(22q11) IQ<40
45435 autism F 31 sporadic del(22q11) IQ<40
45856 autism M 38 sporadic del(22q11) IQ<40
46261 autism F 11 sporadic del(22q11) NA
47766 autism M 8 sporadic del(22q11) NA
Si30 autism F 5 sporadic del(22q11) IQ<40 D, E
44813 HFA M 8 familial dup(15q13) NA
12363 MR M 11 sporadic del(22q11) Mild MR D
11780 MR M 3 sporadic del(22q11) Mod MR D
9680 MR F 11 familial del(22q11) Mod MR D
14684 MR M 6 familial del(22q11) DLD
11695 MR F 10 familial del(2p16.3) Mod MR
14921 MR M 4 familial del(16p11) Mild MR D
10417 MR M 14 familial del(16p11) Mild MR IUGR, D
13165 MR F 4 sporadic dup(16p11) Mild MR D
14390 MR F 9 familial del(16p11) DLD
13907 MR F 9 sporadic del(15q13) Mild MR M, D
11919 MR F 7 familial del(15q13) Mild MR
9930 MR M 12 familial del(15q13) Mild MR D
12988 MR M 8 sporadic del(8p23) Mild MR M, D, E

a: diseases associated CNVs, b: clinical features of patients with CNVs, M: male; F: female, HFA: High-functioning autism, SZ: schizophrenia, SZ AFF: schizoaffective disorder, MR: mental retardation, Mod: moderate, DLD: developmental learning disorder, Del: deletion; dup: duplication, HRK: High resolution karyotype, D: dysmorphism; E: epilepsy; M: microcephaly; IUGR: intrauterine growth retardation, NA: not assessed

* deletion also present in a sibling with schizophrenia
** duplication present in a schizophrenic and a healthy sibling, and not present in a schizoaffective sibling
*** deletion not present in a sibling with mental retardation
**** deletion present in the proband and an affected sibling
maternally derived
Arch Gen Psychiatry. 2009 September; 66(9): 947–56.
doi: 10.1001/archgenpsychiatry.2009.80.