"Neuroscience Bulletin" published research results of the Center of Excellence for Brain Intelligence on genetic variation leading to autism

5pt; font-family:"",sans-serif;mso-bidi-font-family:;color:black;mso-font-kerning: 0pt'>2021 5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-font-kerning:0pt'>Nian 5 Yue 4 , the "Neuroscience Bulletin" online journal published a report entitled "Autism found CHD7 intron variation affect neuronal differentiation and development 5pt;font-family:"",sans-serif;mso-bidi-font-family: ;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>," the research paper, the study by the Chinese Academy of Sciences and the intelligent brain Center for Technological Excellence (Institute of Neuroscience), State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Chinese Academy of Sciences, Shanghai Center for Brain Science and Brain-inspired Research, Qiu Zilong Research Group and Chen Yuejun Research Group, Shanghai Jiao Tong University The Du Yasong Research Group of Shanghai Mental Health Center cooperated and completed

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>Autism is a type of neurodevelopmental disease that develops in infants and young children

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>Studies of twins and families consistently show that the heritability of autism is very large

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>Qiu Zilong’s research group cooperated with Du Yasong’s research group to collect 167 Chinese autism families, extract the peripheral blood genome for whole exome sequencing , screen risk mutations according to a set of procedures, and then verify the existence of mutations through Sanger sequencing.

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>In order to study whether this point mutation produces functional defects related to CHD7 deletion, Qiu Zilong's research group and Chen Yuejun's research group collaborated to use CRISPR/Cas9- mediated homologous recombination to construct stem cells containing CHD7 intron point mutations

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>This work discovered an enriched genetic point mutation in the CHD7 gene intron in a Chinese family of autism , verified its function and mechanism on neurodevelopment, and provided evidence support for common mutations as the genetic cause of autism.

5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>This work was completed by Zhang Ran, a Ph.

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5pt;font-family:"",sans-serif; mso-bidi-font-family:;color:black;mso-themecolor:text1;mso-font-kerning:0pt'>Legend ( A ) Schematic diagram of point mutation