Role of CNTNAP2 in autism manifestation outlines the regulation of signaling between neurons at the synapse

Agarwala, Swati; Ramachandra, Nallur B.

doi:10.1186/s43042-021-00138-z

Egyptian Journal of Medical Human Genetics

Table 1 Distribution of autism high-risk gene variants in 222 global whole-exome sequences

From: Role of CNTNAP2 in autism manifestation outlines the regulation of signaling between neurons at the synapse

Autism genes	Gene variants identified in the current study						Previously reported prominent gene variants
Autism genes	Chromosome position	Reported cases %	Variant type	Zygosity	% HI	pLI	Mutation	Reference
CNTNAP2	7q35-q36.1	192 (86.49)	NS	Het	4.94	0.00	3709delG—coding region, exon 22; CNV (deletion)—7q33–q35; exons 1–3 rs7794745 intron 2 CNV (deletion)—promoter; H275Ab—coding region, exon 6	Penagarikano et al. [29]
KMT2C	7q36.1	167 (75.23)	NS, stop gain, FSD	Het	53.58	1.00	c.5216del p.Pro1739Leufs_2; c.7550C>G p.Ser2517; c.1690A>T p.Lys564; c.10812_10815del p.Lys3605fs	Koemans et al. [30]
CACNA1C	12p13.33	152 (68.46)	NS, NFS	Het, Hom	8.42	1.00	c.1204G>A p.Gly402Ser; c.1978_1983dup p.Leu660_Phe661dup; c.2437G>A p.Gly813Arg; c.2449C>T p.Pro817Ser	Feliciano et al. [31]; Schaaf et al. [32]
SHANK3	22q13.33	124 (55.86)	NS, FSI, NFS	Het, Hom	60.09	1.00	p.A1243GfsX69, Frameshift AD, de novo	Rossi et al. [33]
ANK2	4q25-q26	63 (28.38)	NS, stop gain, FSI	Het	24.10	1.00	p.D2894Afs*20, frameshift AD, de novo	Rossi et al. [33]
HECTD4	12q24.13	87 (39.18)	NS, FSD, NFS	Het	23.89	1.00	c.11540_11542del p.Phe3847del; c.11651-29T>G; c.12743G>A p.Arg4248His; c.1741C>G p.Gln581Glu	Satterstrom et al. [34]
MAP1A	15q15.3	77 (34.68)	NS, NFS	Het	54.63	1.00	None
SKI	1p36.33-p36.32	60 (27.02)	NS	Het	34.03	1.00	c.1124G>A p.Arg375His; c.1138C>T p.Arg380Ter; c.2180_2184del p.Glu727ValfsTer100	Yuen et al. [35]; Rubeis et al. [36]; Satterstrom et al. [34]
SRCAP	16p11.2	49 (22.07)	NS, NFS	Het	34.43	1.00	c.450C>G p.Asp150Glu; c.5179A>T p.Thr1727Ser; c.5809G>A p.Gly1937Ser; c.5972_5975del p.His1991ProfsTer44; c.6409del Asp2137ThrfsTer41; c.7002G>C p.Gln2334His;	Iossifov et al. [37]; Yuen et al. [35]; Rubeis et al. [36]
CUL7	6p21.1	204 (91.89)	NS, NFS	Hom, Het	52.20	0.00	c.1644G>A p.Trp548Ter;c.1792C>T p.Gln598Ter; c.1900C>T p.Arg634Ter; c.2120G>A p.Arg707His; c.2166del p.Glu723SerfsTer31;c.236G>A p.Arg79His	Krumm et al. [38]; Wang et al. [39]
ZNF804A	2q32.1	163 (73.42)	NS, NFSI	Hom, Het	.	.	c.346C>T p.Arg116Cys; c.613C>G p.Gln205Glu	Iossifov et al. [37]; Yuen et al. [35]
CNTNAP3	9p12	147 (66.21)	NS, NFSD	Hom, Het	87.16	0.00	c.1228G>T p.Gly410Cys; c.1840C>G p.Pro614Ala; c.2356C>T p.Arg786Cys; c.2357G>A p.Arg786His; c.3655C>T p.Arg1219Ter	Li et al. [40]; Turner et al. [41]
CACNA1H	16p13.3	141 (63.51)	NS, stop gain	Hom, Het	71.69	.	c.1612C>T p.Leu538Phe; c.2051C>A p.Pro684His; c.2102C>T p.Pro701Leu; c.2153A>G p.Glu718Gly; c.2264G>A p.Gly755Asp	Klassen et al. [42]
LRP1	12q13.3	97 (43.69)	NS	Hom, Het	.	.	c.10190A>G p.Asn3397Ser; c.10274G>A p.Arg3425His; c.11432C>G p.Ser3811Trp; c.11452G>A p.Gly3818Ser	Torrico et al. [43]
CNTN4	3p26.3-p26.2	51 (22.97)	NS	Hom, Het	6.89	.	c.1814T>C p.Ile605Thr;c.1889A>G p.Tyr630Cys; c.532A>G p.Asn178Asp; c.662G>A p.Gly221Asp; c.992A>G p.Glu331Gly	Sener et al. [44]

Back to article page