Biology and Medicine
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A BRAT1 Synonymous Mutation Affecting Exon Splicing leads to Lethal Neonatal Rigidity and Multifocal Seizure Syndrome: A Chinese Case Report


Section : Case Report

Published Date : Oct 25,2022



Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL, OMIM#614498), is caused by mutations of the BRAT1 gene. Our patient had the typical syndromes of RMFSL, and Trio whole exome sequencing (trio-WES) identified a homozygous synonymous variant (BRAT1:C.1395 (exon10) G>C). Given that the pathogenicity of synonymous mutation (p.Thr465Thr) is most likely underestimated, a further transcriptional study of the father showed that C.1395 (exon10) G>C mutation would result in abnormal splicing, which caused the exon 10 skipping and affected protein features. We first confirmed the pathogenicity of the synonymous mutation of BRAT1 using a transcriptional study.

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