LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction.

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.