Article

A Novel SLC26A4 Frameshift Variant Is Associated with Reduced Mutant-Allele RNA Abundance in Blood Leukocytes

2026-02-27

Abstract excerpt

<title>Abstract</title> <p>A novel SLC26A4 mutation, c.997_998insA, was identified in a 4-year-old child presenting with classic enlarged vestibular aqueduct (EVA). This single-nucleotide insertion causes a frameshift and introduces a premature termination codon (PTC), suggesting a potential role for nonsense-mediated mRNA decay (NMD). Although AlphaGenome predicted no appreciable reduction in RNA abundance, pyro...

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Literature Corpus work: 8f07cde4-d1e1-5475-b3d9-c7435d889f44
DOI: 10.21203/rs.3.rs-8954141/v1

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A Novel SLC26A4 Frameshift Variant Is Associated with Reduced Mutant-Allele RNA Abundance in Blood LeukocytesDOI 10.21203/rs.3.rs-8954141/v1Read

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