Advances in Psychological Science ›› 2018, Vol. 26 ›› Issue (12): 2141-2152.doi: 10.3724/SP.J.1042.2018.02141
• Regular Articles • Previous Articles Next Articles
JU Xingda1(), SONG Wei1, XU Jing2()
Received:
2018-05-19
Online:
2018-12-15
Published:
2018-10-30
Contact:
JU Xingda,XU Jing
E-mail:juxd513@nenu.edu.cn;xuj391@nenu.edu.cn
CLC Number:
JU Xingda, SONG Wei, XU Jing. CHRM3 gene and autism spectrum disorder[J]. Advances in Psychological Science, 2018, 26(12): 2141-2152.
突变类型 | 等位基因改变 | 氨基酸改变 | 遗传模式 | 参考文献 |
---|---|---|---|---|
无义突变 | c.1762C>T | p.Gln588Ter | 家系遗传 | Li et al., (2017) |
错义突变 | c.1504A>G | p.Ile502Val | 新生突变 | De Rubeis et al., (2014) |
错义突变 | c.1423A>T | p.Ile475Phe | 新生突变 | |
缺失 | — | — | 新生突变 | Perrone et al., (2012) |
缺失 | — | — | 未知 | Petersen AK et al., (2012) |
突变类型 | 等位基因改变 | 氨基酸改变 | 遗传模式 | 参考文献 |
---|---|---|---|---|
无义突变 | c.1762C>T | p.Gln588Ter | 家系遗传 | Li et al., (2017) |
错义突变 | c.1504A>G | p.Ile502Val | 新生突变 | De Rubeis et al., (2014) |
错义突变 | c.1423A>T | p.Ile475Phe | 新生突变 | |
缺失 | — | — | 新生突变 | Perrone et al., (2012) |
缺失 | — | — | 未知 | Petersen AK et al., (2012) |
特征 | Perrone等人报道的患者 | Andrea Klunder Petersen等人报道的患者 |
---|---|---|
年龄、性别 | 7岁, 男 | 3岁7个月, 男 |
智力缺陷 | + | + |
发育迟缓 | + | + |
孤独症行为 | + | + |
癫痫 | - | - |
进食困难 | + | + |
身材短小 | + | - |
体重偏轻 | + | - |
曲指 | + | - |
斜视 | + | + |
自伤倾向 | + | + |
脑部核磁共振造影 | 正常 | 正常 |
社交退缩 | + | + |
言语发育迟缓 | + | + |
运动发育迟缓 | + | NA |
特征 | Perrone等人报道的患者 | Andrea Klunder Petersen等人报道的患者 |
---|---|---|
年龄、性别 | 7岁, 男 | 3岁7个月, 男 |
智力缺陷 | + | + |
发育迟缓 | + | + |
孤独症行为 | + | + |
癫痫 | - | - |
进食困难 | + | + |
身材短小 | + | - |
体重偏轻 | + | - |
曲指 | + | - |
斜视 | + | + |
自伤倾向 | + | + |
脑部核磁共振造影 | 正常 | 正常 |
社交退缩 | + | + |
言语发育迟缓 | + | + |
运动发育迟缓 | + | NA |
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