Categories: Hearing / vestibular / ear phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: no

History: This disorder was first reported by Yokoyama et al. (2012).

Inheritance: Schmutz (2014) provided data from Border Collies consistent with autosomal dominant inheritance, but could not rule out more than one locus being involved.

Mapping: Yokoyama et al. (2012) "performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies" and "identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09×10−13)". Resequencing of two likely positional candidate genes and validation in other cohorts implicated variants in the genes USP31 and RBBP6.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: As reported by Yokoyama et al. (2012): "the owners of the dogs included in this study estimated the age of onset of hearing loss based upon close observations of behavioral characteristics in working dogs indicating poor hearing (e.g., reduced call distance, poor performance). The average estimated age of onset was 4.3 years (S.E. of 0.5 years), with a range of 1–9 years."

Breed: Border Collie (Dog) (VBO_0200193).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below