New Study Reveals Genetic Link Between Dominant Blue Eyes and Hearing Loss in Maine Coon Cats
06.09.2024
Published in G3: Genes|Genomes|Genetics (Volume 14, Issue 9, September 2024)
A recent study “PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome “ led by Dr. Gabriela Rudd-Garces -Manager of Research and Development at generatio GmbH- and colleagues, has uncovered a genetic variant in the PAX3 gene responsible for dominant blue eyes (DBE),hearing impairment and variable white spotting in Maine Coon cats.
The research examined 58 Maine Coon cats descending from 2 different DBE lineages, the Dutch and Topaz lines. A brainstem auditory evoked response (BAER) test showed unilateral or bilateral deafness in all examined DBE animals. Genetic analysis revealed a private loss-of -function geneticvariant in the PAX3 gene, (c.937C>T), within all DBE animals from the Dutch lineage. PAX3 variants are known to cause auditory–pigmentary syndrome in humans, horses, and mice.
Key Findings:
The study identified a PAX3 heterozygous variant in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.
New Innovative DNA test for cats: Detection of deafness in dominant blue-eyed cats (DBE). generatio has developed a DNA test for the PAX3 gene. This test allows breeders and cat owners to screen for the DBE-related hearing loss variant, offering valuable insight for cat breeding programs.