ArticleAnimal genetics2025
LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.
Article in Animal genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Transcriptomic Challenges We Faced with Animal Models for Neurological Disorders.Current issues in molecular biology · 2026Review
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vestibular disorders associated with hearing loss are indicative of inner ear dysfunction. We investigated a young cat presenting with deafness and vestibular signs. Magnetic resonance imaging of the brain revealed no abnormalities. No obvious visual impairment was reported on ophthalmological examination. Whole-genome sequencing of the affected cat and comparison with 106 control genomes identified a private homozygous splice site variant in the LHFPL5 gene, XM_003986102.4:c.413-2A>G. In humans, LHFPL5 variants are known to cause autosomal recessive deafness, sometimes accompanied by bilateral vestibular areflexia. The LHFPL5 protein is essential for hearing and balance, as it anchors the tip link of inner ear hair cells to the mechano-electrical transducer channel. The identified splice site variant in the investigated cat is likely to result in loss of functional LHFPL5 and represents a candidate causal variant for the observed auditory and vestibular dysfunction in the affected cat.
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