A de novo<i> TOP2B</i> variant associated with global developmental delay and autism spectrum disorder
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- Takuya Hiraide
- Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan
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- Seiji Watanabe
- Department of Pediatrics Izu Medical and Welfare Center Izunokuni Japan
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- Tomoko Matsubayashi
- Department of Pediatric Neurology Shizuoka Children's Hospital Shizuoka Japan
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- Kumiko Yanagi
- Department of Genome Medicine National Center for Child Health and Development Tokyo Japan
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- Mitsuko Nakashima
- Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan
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- Tsutomu Ogata
- Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan
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- Hirotomo Saitsu
- Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan
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<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p><jats:italic>TOP2B</jats:italic> encodes type II topoisomerase beta, which controls topological changes during DNA transcription. <jats:italic>TOP2B</jats:italic> is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense <jats:italic>TOP2B</jats:italic> variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the association between <jats:italic>TOP2B</jats:italic> variants and NDDs remains uncertain.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We found a de novo variant in <jats:italic>TOP2B</jats:italic> (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.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study supports the finding that <jats:italic>TOP2B</jats:italic> variants may cause NDDs.</jats:p></jats:sec>
収録刊行物
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- Molecular Genetics & Genomic Medicine
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Molecular Genetics & Genomic Medicine 8 (3), 2020-01-17
Wiley