OMIA 001871-9615 : Glaucoma, primary closed-angle in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

History: This disorder in Dandie Dinmont Terriers was first described by Ahonen et al. (2013).

Mapping: Ahonen et al. (2013) conducted a GWAS on 23 affected and 23 control Dandie Dinmot Terriers, each genotyped with the Illumina’s Canine SNP20 BeadChip, yielding 13, 560 informative SNPs. Analysis "revealed a 9.5 Mb associated region with genome wide significance ranging from 20040105 bp to 29518099 bp on CFA8 (build 2.1 of the canine genome reference sequence)". Subsequent fine mapping narrowed the candidate region to 1.6Mb, containing seven protein-coding genes. Mutation screening in the most likely five of these failed to reveal a causal mutation.

From a GWAS in Basset Hounds, Ahram et al. (2014) identified two regions on chromosomes CFA14 and CFA24.

In a different Basset Hound cohort, Ahram et al. (2015) identified a 1.82Mbp region on chromosome CFA19q.

Molecular basis: Ahram et al. (2015) reported a potentially pathogenic missense mutation in the nebulin gene (NEB) (g.5588214 A->G in exon 48; p.2051 Lys->Arg), which is located in their candidate region of CFA19q, as being strongly (but not completely) associated with the disorder in Basset Hounds.

Breeds: Basset Hound, Dandie Dinmont Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NEB nebulin Canis lupus familiaris 19 NC_006601.3 (52921064..52720427) NEB Homologene, Ensembl, NCBI gene

References


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.
2017 Graham, K.L., McCowan, C., White, A. :
Genetic and Biochemical Biomarkers in Canine Glaucoma. Vet Pathol 54:194-203, 2017. Pubmed reference: 27681326. DOI: 10.1177/0300985816666611.
2015 Ahram, D.F., Grozdanic, S.D., Kecova, H., Henkes, A., Collin, R.W., Kuehn, M.H. :
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. PLoS One 10:e0126660, 2015. Pubmed reference: 25938837. DOI: 10.1371/journal.pone.0126660.
Komáromy, A.M., Petersen-Jones, S.M. :
Genetics of Canine Primary Glaucomas. Vet Clin North Am Small Anim Pract 45:1159-82, v, 2015. Pubmed reference: 26277300. DOI: 10.1016/j.cvsm.2015.06.003.
Pearl, R., Gould, D., Spiess, B., Pearl, R., Gould, D., Spiess, B. :
Progression of pectinate ligament dysplasia over time in two populations of Flat-Coated Retrievers. Vet Ophthalmol 18:6-12, 2015. Pubmed reference: 24025050. DOI: 10.1111/vop.12098.
Pizzirani, S. :
Definition, Classification, and Pathophysiology of Canine Glaucoma. Vet Clin North Am Small Anim Pract 45:1127-57, v, 2015. Pubmed reference: 26456751. DOI: 10.1016/j.cvsm.2015.06.002.
2014 Ahram, D.F., Cook, A.C., Kecova, H., Grozdanic, S.D., Kuehn, M.H. :
Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound. Mol Vis 20:497-510, 2014. Pubmed reference: 24791135.
2013 Ahonen, S.J., Pietilä, E., Mellersh, C.S., Tiira, K., Hansen, L., Johnson, G.S., Lohi, H. :
Genome-wide association study identifies a novel canine glaucoma locus. PLoS One 8:e70903, 2013. Pubmed reference: 23951034. DOI: 10.1371/journal.pone.0070903.

Edit History


  • Created by Frank Nicholas on 22 Aug 2013
  • Changed by Frank Nicholas on 22 Aug 2013
  • Changed by Frank Nicholas on 17 May 2015
  • Changed by Frank Nicholas on 24 Jan 2018