Article
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Scientific reports - 6 Jun 2017
Nishi Akira, Numata Shusuke, Tajima Atsushi, Zhu Xiaolei, Ito Koki, Saito Atsushi, Kato Yusuke, Kinoshita Makoto, Shimodera Shinji, Ono Shinji, Ochi Shinichiro, Imamura Akira, Kurotaki Naohiro, Ueno Shu-Ichi, Iwata Nakao, Fukui Kiyoshi, Imoto Issei, Kamiya Atsushi, Ohmori Tetsuro
Abstract excerpt
Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents. Among nine SNVs, we explored the functional impact of the de novo mutation in TBL1XR1 [c.30 C > G (p.Phe10Leu)], a gene previously found to be associated with autism spectrum disorder and epilepsy. Protein structural...
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