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Primary Hereditary Cataract (PHC)
Breed: Australian Shepherd
Generic Phene Data
Breeds
Relevance Rating: There is some 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
General
Disease Name
Primary Hereditary Cataract (PHC)
OMIA
1758
Gene Name
HSF4-1
Gene Name 2
HSF4-2
Mutation
g.85286582delC
Mutation 2
g.85286582_3insC
Test Type
Genetic Disease/Disorder
Details
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Details 2
Affected dogs develop cataracts in both eyes at an early age. The condition is not congenital, so the lenses are normal at birth but cataracts appear at a few weeks to months in age, progressing to total cataract (and resulting blindness) by 2 to 3 years of age.
Patents/ Licences
Patent: Animal Health Trust. License: OptiGen - US. Test Discovery: Animal Health Trust (Publication: 1). (please note that patent and licensing laws and coverage vary by country)
Published
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubmed reference: 19883468. DOI: 10.1111/j.1463-5224.2009.00735.x.
Published 2
Bellumori, T.P., Famula, T.R., Bannasch, D.L., Belanger, J.M., Oberbauer, A.M. : Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021. DOI: 10.2460/javma.242.11.1549.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Staffordshire Bull Terriers, Boston Terriers and French Bulldogs, Australian Shepherds, Miniature American Shepherds
Breed-specific 1
Australian Shepherd, Boston Terrier, Staffordshire Bull Terrier
Breed-specific 1 Details
Original publication (Mellersh et al., 2006) demonstrated a strong association between mutations and disease in SBTs (insertion) and a small number of Boston Terriers and Australian Shepherds (deletion). Abberrant splicing demonstrated. Subsequent publications (Mellersh et al., 2007; Mellersh et al., 2009) demonstrated strong association between insertion and EHC in Boston Terriers and deletion and HC in Australian Shepherds.
Breed-specific 2
French Bulldog
Breed-specific 2 Details
Unpublished. AHT has unpublished data indicating at least one dog of this breed is homozygous for this mutation and is affected with the associated disease, which they would be willing to share with an expert panel.
Breed-specific 3
American Shepherd
Breed-specific details 3
Unpublished.
HSP Test-Specific Data
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
342
GTP Breed
Australian Shepherd
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mellersh, CS., Mclaughlin, B., Ahonen, S., Pettitt, L., Lohi, H., Barnett, KC.: Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. Vet Ophthalmol 12:372-8, 2009. Pubme
Application in the Breed
No breeding of affected animals (n/PHC, PHC/PHC). Opaque cataracts are usually fully covering both eyes by 2 ? 3 years of age, resulting in full blindness
Inheritance
AR
FCI Number
342
GTP Breed
Australian Shepherd
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
PHC
Gene Name
HSF4
Mutation
c.971del
Mutation Comment
g.82198114del
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
This test is outsourced to:
Weatherby's
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Ricketts, S.L., Pettitt, L., McLaughlin, B., Jenkins, C.A., Mellersh, C.S. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog. Mamm Genome :, 2015. Pubmed reference: 25894238. DOI: 10.1007/s00335-015-9562-2. 2015
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582delC
Nature of test
mutation test
FCI Number
342
GTP Breed
Australian Shepherd
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
HSF4
Mutation
g.85286582delC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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