A novel NONO variant that causes developmental delay and cardiac phenotypes

A novel NONO variant that causes developmental delay and cardiac phenotypes

Abstract The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three proteins: SFPQ, PSPC1, and NONO. Hemizygous loss-of-function (LoF) variants in NONO cause a developmental delay with several complications (e.g.,...

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Main Authors: Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Format: Article
Language:English
Published: Nature Portfolio 2023-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-27770-6

Internet

https://doi.org/10.1038/s41598-023-27770-6

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