Both rare and common genetic variants contribute to autism in the Faroe Islands

Claire S Leblond; Freddy Cliquet; Coralie Carton; Guillaume Huguet; Alexandre Mathieu; Thomas Kergrohen; Julien Buratti; Nathalie Lemière; Laurence Cuisset; Thierry Bienvenu; Anne Boland; Jean-Fran?ois Deleuze; Tormodur Stora; Rannva Biskupstoe; Jónrit Halling; Guerie Andorsdóttir; Eva Billstedt; Christopher Gillberg; Thomas Bourgeron

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Both rare and common genetic variants contribute to autism in the Faroe Islands

机译：法罗群岛的罕见遗传病和常见遗传病均导致自闭症

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carrying de novo deleterious variants in individuals with autism without intellectual disability. In summary, our analysis provides a better understanding of the genetic architecture of autism in isolated populations by highlighting the role of both common and rare gene variants and pointing at new autism-risk genes. It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism.

机译：在没有智力障碍的自闭症患者中携带从头开始的有害变体。总而言之，我们的分析通过强调常见和稀有基因变体的作用并指出新的自闭症风险基因，可以更好地了解孤独症人群的遗传结构。它还表明，需要更多有关多种基因突变如何影响神经元功能的知识，才能充分理解自闭症的遗传结构。

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《NPJ genomic medicine.》 |2019年第1期|共10页
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Claire S Leblond; Freddy Cliquet; Coralie Carton; Guillaume Huguet; Alexandre Mathieu; Thomas Kergrohen; Julien Buratti; Nathalie Lemière; Laurence Cuisset; Thierry Bienvenu; Anne Boland; Jean-Fran?ois Deleuze; Tormodur Stora; Rannva Biskupstoe; Jónrit Halling; Guerie Andorsdóttir; Eva Billstedt; Christopher Gillberg; Thomas Bourgeron;
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机译：常见的遗传变异会导致罕见的严重神经发育障碍的风险
2. Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism [J] . Wang Jian, Tao Yu, Song Fan, Annals of Human Genetics . 2015,第5期

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6. Both rare and common genetic variants contribute to autism in the Faroe Islands [O] . Claire S Leblond, Freddy Cliquet, Coralie Carton, 2019

机译：法罗群岛的罕见遗传病和常见遗传病均导致自闭症
7. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders [O] . Mari E. K. Niemi, Hilary C. Martin, Daniel L. Rice, 2018

机译：常见的遗传变异有助于罕见的严重神经发育障碍的风险

Both rare and common genetic variants contribute to autism in the Faroe Islands

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