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De novo genic mutations among a Chinese autism spectrum disorder cohort

Author

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  • 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
    Mental Health Institute, the Second Xiangya Hospital, Central South University)

  • Bo Xiong

    (University of Washington School of Medicine
    Present address: Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13, Hangkong Road, Wuhan, Hubei 430030, China)

  • 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
    Collaborative Innovation Center for Genetics and Development
    Key Laboratory of Medical Information Research, Central South University)

  • Evan E. Eichler

    (University of Washington School of Medicine
    Howard Hughes Medical Institute, University of Washington)

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.

Suggested Citation

  • 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, 2016. "De novo genic mutations among a Chinese autism spectrum disorder cohort," Nature Communications, Nature, vol. 7(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms13316
    DOI: 10.1038/ncomms13316
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    Cited by:

    1. Luye Qin & Jamal B. Williams & Tao Tan & Tiaotiao Liu & Qing Cao & Kaijie Ma & Zhen Yan, 2021. "Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures," Nature Communications, Nature, vol. 12(1), pages 1-14, December.
    2. Yudong Gao & Daichi Shonai & Matthew Trn & Jieqing Zhao & Erik J. Soderblom & S. Alexandra Garcia-Moreno & Charles A. Gersbach & William C. Wetsel & Geraldine Dawson & Dmitry Velmeshev & Yong-hui Jian, 2024. "Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    3. Ken-ichi Dewa & Nariko Arimura & Wataru Kakegawa & Masayuki Itoh & Toma Adachi & Satoshi Miyashita & Yukiko U. Inoue & Kento Hizawa & Kei Hori & Natsumi Honjoya & Haruya Yagishita & Shinichiro Taya & , 2024. "Neuronal DSCAM regulates the peri-synaptic localization of GLAST in Bergmann glia for functional synapse formation," Nature Communications, Nature, vol. 15(1), pages 1-18, December.

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