De novo genic mutations among a Chinese autism spectrum disorder cohort

Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Min Long, Janice Lin, Zev N. Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia () and Evan E. Eichler ()
Additional contact information
Tianyun Wang: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Hui Guo: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Bo Xiong: University of Washington School of Medicine
Holly A.F. Stessman: University of Washington School of Medicine
Huidan Wu: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Bradley P. Coe: University of Washington School of Medicine
Tychele N. Turner: University of Washington School of Medicine
Yanling Liu: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Wenjing Zhao: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Kendra Hoekzema: University of Washington School of Medicine
Laura Vives: University of Washington School of Medicine
Lu Xia: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Meina Tang: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Jianjun Ou: Mental Health Institute, the Second Xiangya Hospital, Central South University
Biyuan Chen: Children’s Development Behavior Center, Third Affiliated Hospital of Sun Yat-sen University
Yidong Shen: Mental Health Institute, the Second Xiangya Hospital, Central South University
Guanglei Xun: Mental Health Center of Shandong Province
Min Long: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Janice Lin: University of Washington School of Medicine
Zev N. Kronenberg: University of Washington School of Medicine
Yu Peng: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Ting Bai: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Honghui Li: Liuzhou Maternity and Child Healthcare Hospital
Xiaoyan Ke: Child Mental Health Research Center, Nanjing Brain Hospital Affiliated of Nanjing Medical University
Zhengmao Hu: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Jingping Zhao: Mental Health Institute, the Second Xiangya Hospital, Central South University
Xiaobing Zou: Children’s Development Behavior Center, Third Affiliated Hospital of Sun Yat-sen University
Kun Xia: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
Evan E. Eichler: University of Washington School of Medicine

Nature Communications, 2016, vol. 7, issue 1, 1-10

Abstract: Abstract Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate, ∼4% of ASD patients carry a DN mutation in one of just 29 autism risk genes. The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L. We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). Phenotypic follow-up confirms potential subtypes and highlights how large global cohorts might be leveraged to prove the pathogenic significance of individually rare mutations.

Date: 2016
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DOI: 10.1038/ncomms13316

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