Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder.
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DOI：
10.1007/s10803-017-3256-4
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发表时间：
2017-11
影响因子：
3.9
通讯作者：
Bernier R
中科院分区：
文献类型：
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作者：
Goin-Kochel RP;Trinh S;Barber S;Bernier R
据报道，大约三分之一的自闭症谱系障碍（ASD）儿童在头三年内失去了技能，但因果机制仍然难以捉摸。考虑到ASD的强遗传效应的证据和ASD中不同表型与特定遗传事件相关的发现，我们检查了Simons Simplex Collection中父母报告的回归率，其中可能的基因破坏（LGD）突变来自五个不同类别：FMRP靶基因，编码染色质修饰剂的基因，优先在胚胎中表达的基因，编码突触后密度蛋白的基因和必需基因。患有ASD和突触后密度基因突变的儿童更有可能经历回归，而一种趋势表明，患有ASD和胚胎基因突变的儿童不太可能失去技能。
Approximately one third of children with autism spectrum disorder (ASD) reportedly lose skills within the first three years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting (LGD) mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses.
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影响因子：
2.5
作者：
Goin-Kochel, Robin P.;Esler, Amy N.;Hus, Vanessa
通讯作者：
Hus, Vanessa
影响因子：
16.2
作者：
Elias, Guillermo M.;Funke, Lars;Nicoll, Roger A.
通讯作者：
Nicoll, Roger A.
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
4.5
作者：
Georgi B;Voight BF;Bućan M
通讯作者：
Bućan M
影响因子：
9
作者：
通讯作者：
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