Table 2 Characterization and validation by array technologies of rare CNVs found in patients with schizophrenia

From: Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Patient MLPA probe CNV type Chromosome Inheritance Validation Start variant End variant Size Flanking SDs Affected genes a
P1 CABIN1 Gain 22q11.23 De novo b Illumina-370 K 21 338 007 23 327 473 1.9 Mb Yes 31 genes
P2   Gain   NA Illumina-370 K 21 995 356 23 327 473 1.3 Mb Yes 27 genes
P1 SNAP29 Gain 22q11.21 Mother Illumina-370 K 19 424 781 19 792 353 367.5 kb Yes 8 genes
P3 NDNL2 Gain 15q13.1 De novo Illumina-370 K 27 261 995 27 730 663 468.6 kb No NDNL2, KIAA0527
P4 WWOX Gain 16q23.1 NA Agilent-244 K 76 755 512 77 263 464 507.9 kb No WWOX
P5 ZNHIT3 Gain 17q12 Father Agilent-244 K 31 889 297 31 948 060 58.7 kb Yes ZNHIT3, MYOHD1
P6 PRKRIP1 Gain 7q22.1 NA MLPA     Yes PRKRIP1
P7 MYOM2 Gain 8p23.3 NA MLPA     Yes MYOM2
P8 SSTR5 Gain 16p13.3 NA Illumina-370 K 1 066 680 1 071 696 5.0 kb No SSTR5
P9, P10      MLPA      
  1. Abbreviations: CNVs, copy number variants; MLPA, multiplex ligation-dependent probe amplification; NA, not analysed; SDs, segmental duplications.
  2. aSupplementary Table S5 contains the list of genes involved in duplications found in patients.
  3. bInheritance was assessed by MLPA (Supplementary Figures S2 and S3). Microsatellite analysis showed an intrachromosomic rearrangement produced in the chromosome inherited from the father (Supplementary Figure S4).