Nature Communications (Feb 2020)

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

  • Kensuke Matsumura,
  • Kaoru Seiriki,
  • Shota Okada,
  • Masashi Nagase,
  • Shinya Ayabe,
  • Ikuko Yamada,
  • Tamio Furuse,
  • Hirotoshi Shibuya,
  • Yuka Yasuda,
  • Hidenaga Yamamori,
  • Michiko Fujimoto,
  • Kazuki Nagayasu,
  • Kana Yamamoto,
  • Kohei Kitagawa,
  • Hiroki Miura,
  • Nanaka Gotoda-Nishimura,
  • Hisato Igarashi,
  • Misuzu Hayashida,
  • Masayuki Baba,
  • Momoka Kondo,
  • Shigeru Hasebe,
  • Kosei Ueshima,
  • Atsushi Kasai,
  • Yukio Ago,
  • Atsuko Hayata-Takano,
  • Norihito Shintani,
  • Tokuichi Iguchi,
  • Makoto Sato,
  • Shun Yamaguchi,
  • Masaru Tamura,
  • Shigeharu Wakana,
  • Atsushi Yoshiki,
  • Ayako M. Watabe,
  • Hideyuki Okano,
  • Kazuhiro Takuma,
  • Ryota Hashimoto,
  • Hitoshi Hashimoto,
  • Takanobu Nakazawa

DOI
https://doi.org/10.1038/s41467-020-14697-z
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 16

Abstract

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De novo mutations significantly contribute to autism spectrum disorders (ASD). Here, the authors demonstrate that ASD-associated de novo mutations in the POGZ gene, one of a high-confidence ASD gene, lead to ASD-related impaired neuronal development and disrupted mature cortical network function.