A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

Molecular Genetics & Genomic Medicine
Takuya HiraideHirotomo Saitsu

Abstract

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. Trio-based whole-exome sequencing was performed on a 7-year-old girl, presenting muscle hypotonia, stereotypic hand movements, epilepsy, global developmental delay, and autism spectrum disorder. Brain magnetic resonance images were normal. She was unable to walk independently and spoke no meaningful words. We found a de novo variant in TOP2B (NM_001330700.1:c.187C>T, p.(His63Tyr)), which is identical to the previous case. The clinical features of the two individuals with the c.187C>T variant overlapped. Our study supports the finding that TOP2B variants may cause NDDs.

References

May 30, 2003·Proceedings of the National Academy of Sciences of the United States of America·Yi Lisa Lyu, James C Wang
Oct 9, 2012·American Journal of Human Genetics·Menachem FromerShaun M Purcell
Nov 5, 2014·Nature·Silvia De RubeisJoseph D Buxbaum
Mar 28, 2017·Clinica Chimica Acta; International Journal of Clinical Chemistry·Ching-Wan LamChun-Yiu Law
Sep 19, 2018·International Journal of Molecular Sciences·Caroline A AustinIan G Cowell
Jul 14, 2019·Journal of Molecular Biology·Benjamin D BaxThomas Germe
Aug 15, 2019·Nature Communications·Lori BroderickHal M Hoffman

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

ClustalW

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