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

Area of Science:

• Genetics
• Veterinary Medicine
• Neuroscience

Background:

• Vestibular disorders and hearing loss often indicate inner ear dysfunction.
• The LHFPL5 gene is crucial for the function of inner ear hair cells in hearing and balance.

Purpose of the Study:

• To investigate the genetic cause of deafness and vestibular signs in a young cat.
• To identify potential causal variants for auditory and vestibular dysfunction.

Main Methods:

• Whole-genome sequencing of the affected cat and comparison with control genomes.
• Analysis of a private homozygous splice site variant in the LHFPL5 gene (XM_003986102.4:c.413-2A>G).
• Review of human LHFPL5 variant data.

Main Results:

• No abnormalities were found in brain MRI or ophthalmological examinations.
• A novel splice site variant in the LHFPL5 gene was identified in the affected cat.
• This variant is analogous to human LHFPL5 variants causing deafness and vestibular areflexia.

Conclusions:

• The identified LHFPL5 splice site variant is a strong candidate for causing the cat's auditory and vestibular dysfunction.
• This discovery highlights the role of LHFPL5 in inner ear function across species.
• The findings contribute to understanding genetic causes of deafness and balance disorders.