Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

Table 3

Sequence variants identified in Japanese patients with autistic spectrum disorder.

Gene	Exon	SNP ID^1	Location	Translation	ASD^2		Control^3
					Male	Female	EBV cell line	Blood
NLGN3	4	—	c.567+22C>T	Intronic	0/51	1/11	0/90	3/278
		—	c.567+52C>T	Intronic	10/51	2/11	12/90	32/278
	5	—	c.727+47G>C	Intronic	1/51	0/11	0/90	0/278
	7	—	c.1698G>A	p.K566K	1/51	0/11	0/90	0/278
NLGN4X		rs6639602	c.-305-86T>G	5^′UTR	0/51	1/11	1/90	4/278
	2	—	c.297C>T	p.G99G	0/51	1/11	0/90	0/278
	3	—	c.516C>T	p.I172I	1/51	0/11	0/90	0/278
	5	—	c.1590C>T	p.F530F	1/51	0/11	0/90	0/278

¹Reference number of the variant documented in dbSNP build 132 or JSNP. (—) indicates that the variant does not have a reference number.
²Number of ASD patients (50 males, 11 females) with the variant.
³Number of control chromosomes with the variant in EBV transformed cell line (30 males, 30 females) and blood (118 males, 80 females).