Article
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Molecular genetics & genomic medicine - 1 Mar 2020
Hiraide Takuya, Watanabe Seiji, Matsubayashi Tomoko, Yanagi Kumiko, Nakashima Mitsuko, Ogata Tsutomu, Saitsu Hirotomo
Abstract excerpt
BACKGROUND: TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the association between TOP2B variants and...
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