Research Article

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.

GeneNT1 changeA-A2 changeMutation typeEthnic backgroundRef.3NCBI


NLGN4Xc.259C>Tp.R87WMissenseIrish and Scottish[5]NM_020742.2
c.1186 insTp.D396XFrameshiftSwedish[2]NM_020742.2
c.1597A>Gp.K378RMissensePortuguese and Greek[3, 4]NM_020742.2
Not described4p.A558ASynonymousGerman[14]NM_020742.2
del exon 4In-frame5SkippingAGRE6[7]NM_020742.2
del exon 4–6Truncated7Large deletionIrish 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.