Peer-reviewed veterinary case report
Cat with deafness and balance problems linked to LHFPL5 gene variant
By Perret, Assami-Carina et al.·Published in Animal genetics·2025·Institute of Genetics·View original on PubMed →
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Original publication title: LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.
- Species:
- cat
Plain-English summary
A young cat was brought in for deafness and balance problems, which are signs of inner ear issues. After conducting brain imaging and genetic testing, veterinarians found a specific genetic change linked to hearing loss and balance difficulties. This change affects a protein important for hearing and balance, suggesting that it is the cause of the cat's symptoms. Unfortunately, there isn't a treatment to reverse the genetic issue, but understanding the cause can help owners manage their cat's condition better.
People also search for: cat deafness causes · cat balance problems · genetic testing for cats · how to help a deaf cat
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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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41400044/