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

Table 1

Previously identified sequence variations in coding regions in ASD patients.

Gene	NT^1 change	A-A^2 change	Mutation type	Ethnic background	Ref.^3	NCBI
NLGN3	c.222C>T	p.Y74Y	Synonymous	Finnish	[13]	NM_181303.1
	c.1351C>T	p.R451C	Missense	Swedish	[2]	NM_018977.3
NLGN4X	c.259C>T	p.R87W	Missense	Irish and Scottish	[5]	NM_020742.2
	c.759G>A	p.G99S	Missense	Portuguese	[3]	NM_020742.2
	c.1186 insT	p.D396X	Frameshift	Swedish	[2]	NM_020742.2
	c.1253delAG	p.D429X	Frameshift	French	[6]	NM_020742.2
	c.1597A>G	p.K378R	Missense	Portuguese and Greek	[3, 4]	NM_020742.2
	Not described^4	p.A558A	Synonymous	German	[14]	NM_020742.2
	c.2574C>T	p.R704C	Missense	Portuguese	[3]	NM_020742.2
	del exon 4	In-frame^5	Skipping	AGRE^6	[7]	NM_020742.2
	del exon 4–6	Truncated^7	Large deletion	Irish and English	[8]	NM_020742.2

¹NT: nucleotide.
²A-A: amino acid.
³Ref.: reference number.
⁴The number of substituted nucleotides was not mentioned in the reference.
⁵Exon 4 skipping mutation was predicted to result in an in-frame exclusion of 62 amino acids.
⁶Autism genetics resource exchange.
⁷The translated protein was predicted to be entirely truncated between exon 3 and exon 6.