Table 1.

Summary of neurodevelopmental disorder-related genetic variation in CNTNAP2

Genetic change		Location	Phenotype	Study/association	Sample	Refs.
3709delG		Coding region Exon 22	ASD Epilepsy Hyperactivity Language regression	Autozygosity scanning plus sequencing (premature stop codon)	13 patients 105 controls	14
G731S I869T* R1119H D1129H I1253T T1278I		Coding region Exon 14 Exon 17 Exon 20 Exon 21 Exon 23 Exon 24	ASD	Exome sequencing (changes predicted deleterious)	635 patients 942 controls	17
H275R**		Coding region Exon 6	ASD	Exome sequencing (change predicted deleterious)	20 families	19
CNV (deletion)		Promoter	ASD	Array CGH (reduced transcript)	41 cases 367 controls	18
rs7794745	Major allele T	Intron 2	ASD	QTDT, p<0.006	145 families	15
rs2710102	Major allele C	Intron 13	Age at first word in ASD	Quantitative regression p=0.028	304 families	13
			Non-word repetition in SLI	QTDT p=0.002, p=0.0005	184, 181 families	22,23
			Expressive language abilities in SLI	QTDT, p=0.02	181 families	23
			Receptive language abilities in SLI	QTDT, p=0.03
	Minor allele T	Intron 13	Non-word repetition in dyslexia	QTDT, p=0.017	188 families	20
			Selective mutism	FBAT, p=0.018	99 families	21
			Social anxiety	Quantitative regression p=0.015	1028 cases
rs851715	Major allele A	Intron 13	Non-word repetition in SLI	QTDT, p=0.002 QTDT, p=0.002 QTDT, p=0.002 QTDT, p=0.002 QTDT, p=0.002	184 families	22
rs759178	Major allele G
rs1922892	Major allele T
rs2538991	Major allele C
rs2538976	Major allele G
rs10246256	Major allele T	Intron 13	Non-word repetition in SLI	QTDT p=0.001, p=0.0008	184,181 families	22,23
			Expressive language abilities in SLI	QTDT, p=0.006 QTDT, p=0.003	181 families	23
			Receptive language abilities in SLI
rs2710117	Major allele A	Intron 14	Non-word repetition in SLI	QTDT p=0.0004, p=0.001	181, 184 families	22,23
			Expressive language abilities in SLI	QTDT, p=0.018	181 families	23
			Receptive language abilities in SLI	QTDT, p=0.005
rs17236239	Minor allele G	Intron 13	Non-word repetition in SLI	QTDT p=0.00005, p=8×10(−5)	181, 184 families	22,23
			Expressive language abilities in SLI	QTDT p=0.008, p=0.007
			Receptive language abilities in SLI	QTDT, p=0.033	181 families	23
rs4431523	Minor allele G	Intron 13	Receptive language abilities in SLI	QTDT, p=0.003	184 families	22
Complex chromosomal rearrangement		7q32.1–7q35	Language delay ASD	Karyotyping plus FISH	Case report	24
CNV (deletion)		7q34–7q36.2 Several genes	Language delay Epilespy Intellectual disability	Array CGH	Case report	25
CNV (deletion)		7q33–q35 Several genes Exons 1–3 CNTNAP2	Stuttering	Array CGH	Case report	26

^*Variant significantly associated with ASD (p = 0.014)

^**FOXP1 is also mutated in proband

CGH: Comparative Genomic Hybridization

QTDT: Quantitative Transmission Disequilibrium Test

FBAT: Family Based Association Test