Categories: Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609427 (gene) , 610265 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Molecular basis: Perret et al (2025): "Whole‐genome sequencing of the affected cat [with deafness and vestibular signs] and comparison with 106 control genomes identified a private homozygous splice site variant in the LHFPL5 gene, XM_003986102.4:c.413‐2A>G [omia.variant:1862]. ... 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."  

Clinical features: Perret et al (2025): "A 30‐month‐old cat was presented with a chronic history of deafness, vestibular signs, intermittent aggressive behavior, and vocalizations. The owners reported that the cat had never shown any normal response to noise or calling. ...  Neurological examination identified loud vocalizations while pacing into the room, which were subjectively judged to be related to hearing impairment rather than pain. A bilateral head swaying movement was also observed together with a low head and body posture close to the ground ... . An ophthalmological examination was unremarkable."

Associated gene: