Table 3.
Sequence variants identified in Japanese patients with autistic spectrum disorder.
| Gene | Exon | SNP ID1 | Location | Translation | ASD2 | Control3 | ||
|---|---|---|---|---|---|---|---|---|
| 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).