20+ Million Readerbase
Indexed In
  • Open J Gate
  • Genamics JournalSeek
  • CiteFactor
  • Cosmos IF
  • Scimago
  • Ulrich's Periodicals Directory
  • Electronic Journals Library
  • RefSeek
  • Hamdard University
  • Directory of Abstract Indexing for Journals
  • OCLC- WorldCat
  • Proquest Summons
  • Scholarsteer
  • ROAD
  • Virtual Library of Biology (vifabio)
  • Publons
  • Geneva Foundation for Medical Education and Research
  • Google Scholar
Share This Page
Journal Flyer
Flyer image


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

Zhihua Luo*

Background: 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.

Published Date: 2022-10-25; Received Date: 2022-10-23