Behavioral Improvement Through In Vivo Base Editing in a Mouse Model of Snijders Blok-Campeau Syndrome

Abstract excerpt

<title>Abstract</title> <p> Snijders Blok-Campeau Syndrome (SNIBCPS) is a rare neurodevelopmental disorder caused by mutations in the <italic>CHD3</italic> gene. Here, we report a <italic>de novo</italic> single-nucleotide variant (c.C3073T, p.R1025W) in <italic>CHD3</italic> identified in a child with SNIBCPS, which leads to accelerated degradation of the CHD3 protein. Using a <italic>Chd3</italic> <sup...

Topics

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• Autism Spectrum Disorder
• Brain
• Dependovirus
• Disease Models, Animal
• Gene Editing
• MEF2 Transcription Factors
• Mice
• Mutation

Identifiers and source

Literature Corpus work

2daf7e8f-c8f7-5455-af02-569a9b498114

DOI

10.21203/rs.3.rs-5690634/v1