Article
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Scientific reports - 18 Jan 2023
Itai Toshiyuki, Sugie Atsushi, Nitta Yohei, Maki Ryuto, Suzuki Takashi, Shinkai Yoichi, Watanabe Yoshihiro, Nakano Yusuke, Ichikawa Kazushi, Okamoto Nobuhiko, Utsuno Yasuhiro, Koshimizu Eriko, Fujita Atsushi, Hamanaka Kohei, Uchiyama Yuri, Tsuchida Naomi, Miyake Noriko, Misawa Kazuharu, Mizuguchi Takeshi, Miyatake Satoko, Matsumoto Naomichi
Abstract excerpt
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., distinctive facial features, cardiac symptoms, and skeletal symptoms) in an X-linked recessive manner. Most of the reported...
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