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Primary Open Angle Glaucoma (POAG) ADAMTS17

Breed: American Mini-Pei

Generic Phene Data

Breeds
Relevance Rating: There is strong evidence or research available in this breed
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
Genomia s.r.o

General

Disease Name
Primary Open Angle Glaucoma (POAG) ADAMTS17
OMIA
1976
Gene Name
ADAMTS17
Mutation
g.40,935,387_40,935,392delCGTGGT
Mutation 2
inversion between g.40,812,274 and g.45,768,123
Mutation 3
g.40,614,853_40,614,872del
Mutation 4
p.A387T
Mutation 5
c.1552G>A
Mutation 6
c.1159G>A
Mutation 7
c.3070_3075delCGTGGT
Mutation Notes
mutations are breed-specific
Test Type
Genetic Disease/Disorder
Details
Primary glaucoma is a painful and blinding disease associated with high pressure inside the eye. It is an inherited condition that can come in two forms: primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG). Some breeds are known to be at risk of both forms of glaucoma. In both forms, glaucoma results from reduced drainage of fluid from the eye, causing a build-up of pressure which, in turn, leads to pain and blindness. For closed angle glaucoma, a screening technique called gonioscopy (either as part of, or independently of a normal clinical eye exam) can identify dogs at risk.
Details 2
Glaucoma is a heterogeneous disease which is usually associated with defects within the trabecular meshwork (TM) and anterior chamber which lead to obstruction of aqueous humour outflow, elevation of intraocular pressure (IOP) and progressive retinal ganglion cell death and optic nerve degeneration. In humans, glaucoma is the most common cause of irreversible blindness worldwide. Glaucoma is described as primary if it occurs in the absence of any antecedent ocular disease and secondary if it occurs as a result of a concurrent observable ocular condition. Primary glaucoma can be further classified into primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG) on the basis of the appearance of the iridocorneal angle. POAG is the more common form of primary glaucoma in man, will affect 58.9 million people by 2020 and is typically characterised by adult onset and chronic IOP-dependent progression (from Oliver et al 2015)
Published
Forman et al., 2015
Published 2
Oliver, J.A., Forman, O.P., Pettitt, L., Mellersh, C.S. : Correction: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One 11:e0156192, 2016. Pubmed reference: 27192202. DOI: 10.1371/journal.pone.0156192.
Published 3
Oliver, J.A.C., Rustidge, S., Pettitt, L., Jenkins, C.A., Farias, F.H.G., Giuliano, E.A., Mellersh, C.S. : Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res 79:98-106, 2018. Pubmed reference: 29287154. DOI: 10.2460/ajvr.79.1.98.
Published 4
Jeanes, E. C., J. A. C. Oliver, S. L. Ricketts, D. J. Gould and C. S. Mellersh, (2019) Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. Canine Genet Epidemiol, 6, 5.
Body/System/Process
Eye
Inheritance
AR

Breed Specific Info

Researched Breeds
Basset Fauve de Bretagne, Basset Hound, Shar-Pei, Petit Basset Griffon Vendeen
Breed-specific 1
Shar Pei
Breed-specific 1 Details
Breed-specific mutation is c.3070_3075delCGTGGT. Please note that there appears to be a relationship between PLL and POAG (ADAMTS17), where, for Shar Pei, in the ADAMTS17 gene, the breed-specific mutation can be responsible for either PLL or POAG symptoms. Publication demonstrated strong association between mutation and disease. Mutation present in RNA and reduced expression demonstrated. Oliver et al., (2017) Primary open angle glaucoma/primary lens luxation in the Shar Pei: a candidate gene study reveals a novel mutation in ADAMTS17. American Journal of Veterinary Research, 79, 98-106.
Breed-specific 2
Petit Basset Griffon Vendeen
Breed-specific 2 Details
Publication demonstrated strong association between mutation and disease. Mutation present in RNA and altered splicing and reduced expression demonstrated. Forman et al., (2015) A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. PLoS One, 10, e0143546.
Breed-specific 3
Basset Hound
Breed-specific details 3
Publication demonstrated strong association between mutation and POAG in the Basset Hound. No functional evidence but mutation predicted to be high impact. Oliver et al., (2015) Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One, 10, e0140436.
Breed-specific 4
Basset Fauve de Bretagne
Breed-specific details 4
Publication described mutation in small number of clinically affected dogs. No functional evidence. Oliver et al., (2015) Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One, 10, e0140436.
Breed-specific 5
Fawn Brittany Griffon
Breed-specific details 5
unpublished

HSP Test-Specific Data

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
POAG-PLL
Gene Name
ADAMTS17
Mutation
c.3069_3074del
Mutation Comment
g.40935387_40935392delCGTGGT
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