OMIA 001727-9615 : Deafness, adult-onset in Canis lupus familiaris
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. 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.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2014||Schmutz, S.M. :|
|An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol 1:6, 2014. Pubmed reference: 26401323. DOI: 10.1186/2052-6687-1-6.|
|2012||Yokoyama, J.S., Lam, E.T., Ruhe, A.L., Erdman, C.A., Robertson, K.R., Webb, A.A., Williams, D.C., Chang, M.L., Hytönen, M.K., Lohi, H., Hamilton, S.P., Neff, M.W. :|
|Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies. PLoS Genet 8:e1002898, 2012. Pubmed reference: 23028339. DOI: 10.1371/journal.pgen.1002898.|
- Created by Frank Nicholas on 21 Oct 2012
- Changed by Frank Nicholas on 21 Oct 2012
- Changed by Frank Nicholas on 11 Apr 2016