ArticleFrontiers in genetics2026
Novel splice-site variants in
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Hearing loss (HL) is genetically heterozygous, making its genetic diagnosis challenging. Identification of novel HL-associated genes and variants will enhance our understanding of the molecular mechanisms and improve genetic diagnosis. Aims/objectives: This study investigates the molecular etiology of ARNSHL in three Chinese family and functionally characterizes five novel Material and methods: Whole-exome sequencing and gene panel sequencing identified candidate variants, followed by validation with Sanger sequencing. Functional analyses included minigene splicing assays to evaluate the variants' effect on mRNA splicing and a yeast-based functional assay to assess their impacts on protease activity. Results: Three families carrying compound heterozygous Conclusion and significance: This study expands the spectrum of
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