Ontology highlight
ABSTRACT:
SUBMITTER: Hiraide T
PROVIDER: S-EPMC7057084 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Molecular genetics & genomic medicine 20200117 3
<h4>Background</h4>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 NDDs remains uncertain.<h4>Methods</h4>Trio-based whole-exome sequencing was p ...[more]