OMIA 001223-9615 : Goniodysgenesis in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 137600 , 137750 , 138770

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Also known as Goniodysplasia, mesodermal and Mesodermal dysgenesis

Inheritance: Pugh et al. (2019): "Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed."

Mapping: A GWAS on 17 cases and 42 controls enabled Pugh et al. (2019) to map this disorder in Border Collies to a 3.8Mb region between 49,879,074 and 53,632,785 on chromosome CFA17.

Markers: Pugh et al. (2019) noted that although the association of the c.590G>A variant with goniodysgenesis in Border Collies is strong, it is not complete. Oliver et al. (2019) confirmed the incompleteness of this association in Border Collies: "Of the 90 [non-affected] controls, 71 were homozygous for the wild-type allele, two were homozygous for the [c.590G>A] variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous." In other words, the chance of this marker identifying Border Collies that are actually going to be affected is only 69% (11/16).

Molecular basis: Pugh et al. (2019) reported that analysis of "Whole genome sequences [in the candidate region] of three dogs with glaucoma, three severely affected by goniodysgenesis and three unaffected dogs identified a missense variant [c.590G>A] in the olfactomedin like 3 (OLFML3) gene in all six affected animals."

Breeds: Border Collie, Siberian Husky.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OLFML3 olfactomedin-like 3 Canis lupus familiaris 17 NC_006599.3 (51785010..51788032) OLFML3 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.
2019 Oliver, J.A.C., Wright, H., Massidda, P.A., Burmeister, L.M., Mellersh, C.S., Oliver, J.A.C., Wright, H., Massidda, P.A., Burmeister, L.M., Mellersh, C.S. :
A variant in OLFML3 is associated with pectinate ligament abnormality and primary closed-angle glaucoma in Border Collies from the United Kingdom. Vet Ophthalmol :, 2019. Pubmed reference: 31141290. DOI: 10.1111/vop.12680.
Pugh, C.A., Farrell, L.L., Carlisle, A.J., Bush, S.J., Ewing, A., Trejo-Reveles, V., Matika, O., de Kloet, A., Walsh, C., Bishop, S.C., Prendergast, J.G.D., Rainger, J., Schoenebeck, J.J., Summers, K.M. :
Arginine to Glutamine Variant in Olfactomedin Like 3 (<i>OLFML3</i>) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed. G3 (Bethesda) :, 2019. Pubmed reference: 30696701. DOI: 10.1534/g3.118.200944.
2017 Oliver, J.A., Ekiri, A.B., Mellersh, C.S. :
Pectinate ligament dysplasia in the Border Collie, Hungarian Vizsla and Golden Retriever. Vet Rec 180:279, 2017. Pubmed reference: 27999154. DOI: 10.1136/vr.104121.
2016 Fricker, G.V., Smith, K., Gould, D.J. :
Survey of the incidence of pectinate ligament dysplasia and glaucoma in the UK Leonberger population. Vet Ophthalmol 19:379-85, 2016. Pubmed reference: 26359130. DOI: 10.1111/vop.12311.
Oliver, J.A., Ekiri, A., Mellersh, C.S. :
Prevalence of pectinate ligament dysplasia and associations with age, sex and intraocular pressure in the Basset hound, Flatcoated retriever and Dandie Dinmont terrier. Canine Genet Epidemiol 3:1, 2016. Pubmed reference: 26973793. DOI: 10.1186/s40575-016-0033-1.
2015 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.
1998 Wood, J.L., Lakhani, K.H., Read, R.A. :
Pectinate ligament dysplasia and glaucoma in Flat Coated Retrievers. II. Assessment of prevalence and heritability. Vet Ophthalmol 1:91-99, 1998. Pubmed reference: 11397216.
1996 Kellner, S.J. :
Mesodermal goniodysplasia in the Siberian Husky [German] Kleintierpraxis 41:19 ff., 1996.
Ruhli, M.B., Spiess, B.M. :
Goniodysgenesis in the bouvier des flandres dog [German] Schweizer Archiv fur Tierheilkunde 138:307-311, 1996. Pubmed reference: 8765546.
1991 Ekesten, B., Narfström, K. :
Correlation of morphologic features of the iridocorneal angle to intraocular pressure in Samoyeds. Am J Vet Res 52:1875-8, 1991. Pubmed reference: 1785731.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 01 Feb 2019
  • Changed by Frank Nicholas on 01 Jun 2019
  • Changed by Frank Nicholas on 03 Jun 2019