Table 1.
Overview of studies implicating common alleles, structural variants or rare variants of CNTNAP2 in psychiatric disorders.
Table 2.
Common SNPs in CNTNAP2 previously reported to be associated in psychiatric diseases, and their evidence for association in PGC datasets.
Table 3.
Gene-based tests for association of CNTNAP2 across seven psychiatric disorders using GWAS summary statistics of the PGC data sets.
Table 4.
Cross psychiatric disorders meta-analysis of 63 predicted functional SNPs.
Table 5.
CNTNAP2 de novo variants identified across several disease-specific sequencing projects.
Table 6.
Burden analysis of CNTNAP2 ultra-rare variants (URVs) in ASD and SCZ.
Fig 1.
Overview of heterozygous CNVs spanning the CNTNAP2 gene across several diseases.
Abbreviations: ID (Intellectual disability), ASD (autism spectrum disorder), SCZ (schizophrenia), BD (bipolar disorder), ADHD (Attention-deficit/hyperactivity disorder), EP (epilepsy), TS (Tourette syndrome), CMT2 (axonal Charcot-Marie-Tooth), and SS (Speech spectrum: speech delay, childhood apraxia of speech and dyslexia). In parenthesis is reported the reference to each study. *, additional rearrangements reported in this patient. The dashed lines represent the exons and the upper box shows the position of the FOXP2 binding site. In dark shading, CNVs≥80kb found in the general populations from the Database of Genomic Variants are shown.
Fig 2.
CNV deletion encompassing intron 1 of CNTNAP2 in an extended family with bipolar disorder.
A) CytoScan HD array output image shows the position of the drop in signal intensity of 340 probes, indicating a deletion spanning 131kb (chr7:146203548–146334635; GRCh37/hg19) found in the patient 8401. The position of the FOXP2 binding site within the deletion is shown above. B) The bipolar pedigree includes five patients with bipolar disorder I (BPI) across two generations. Symbols: _, individuals with DNA available; &, individuals with whole exome data; #, individuals analysed for genome-wide CNVs through the CytoScan HD array; blue squares, individuals included in CNV qPCR validation and genotyping analysis, for which heterozygous deletion carriers are indicated as “+/del” and non-carriers are indicated as “+/+”. Inferred genotypes are in parentheses. C) Gene dosage results of the qPCR experiments validating the deletion in patient 8401, and showing the deletion in unaffected subject 8407.