Genetic basis of Congenital sensorineural deafness - is a hereditary condition affecting Australian Stumpy Tail Cattle Dogs (ASCD). The condition is evident in young pups, showing unilateral or bilateral deafness. The incidence of deafness in ASCD is about 17.8%, with both unilateral and bilateral cases.

Inheritance and Genetic Linkage - The inheritance pattern fits an autosomal recessive model with incomplete penetrance, meaning not all dogs with two copies of the mutation will be deaf. Deafness in the breed has been genetically linked to canine chromosome 10 (CFA10). Association studies show a strong link between deafness and coat color genes residing close to this locus, particularly related to red coat color and speckling in the breed. The Sox10 gene, a known candidate in other breeds for deafness, was sequenced but no causal mutations were found in ASCD.

Candidate Gene - A recent study identified a missense mutation in the KLF7 gene as a potential candidate for congenital deafness in ASCD. KLF7 (Kruppel-like factor 7) plays a role in the development and survival of neurons, including those in the auditory system. The mutation likely impacts auditory development, contributing to deafness.

Pathophysiology - Deafness results from cochleosaccular degeneration in the inner ear, where the hearing apparatus progressively deteriorates shortly after birth. Melanocytes, essential for the maintenance of the stria vascularis in the cochlea, lack survival due to genetic disruption, impairing auditory function. This mechanism can explain why pigmentation-related genes (impacting melanocytes) have been linked to deafness in many dog breeds, though ASCD deafness appears to be independent of white coat coloration.

Why This Matters to Breeders and Vets - Breeders: Identifying carriers of mutations linked to deafness (like KLF7) through genetic testing can prevent breeding pairs that might produce deaf puppies. Vets: Early diagnosis by screening pups for deafness allows for timely intervention and counseling of owners on management strategies.

Important Use Disclaimer
This test and its results are intended strictly for data gathering and statistical research purposes. It is strongly recommended that key breeding decisions should not be based on these results alone. Always assess the animal’s phenotype to ensure it reflects the genotype. For any breeds not explicitly listed or published in association with this risk, it should be clearly communicated that no published genetic association currently exists.