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Primary Hereditary Cataract (PHC)

Breed: French Bulldog

Generic Phene Data

General

Disease Name
Primary Hereditary Cataract (PHC)
Disease Name 2
Cataract, Early Onset (HC)
OMIA
1758
Gene Name
HSF4-1
Gene Name 2
HSF4-2
Mutation
g.85286582delC
Mutation 2
g.85286582_3insC
OMIM
116800
Disease Code
PHC
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
Inheritance
AR
Gene Name Text
Heat shock factor protein 4

Breed Specific Data

EVG Diagnostics

Link to GTP
Gene Name
HSF4
Mutation
g.85286582?85286583insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Vet Ophthalmol. 2006 Sep-Oct;9(5):369-78

Animal Genetics Inc

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

Animal Health Trust (UK)

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

DNA My Dog

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

OptiGen

Link to GTP
GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

Paw Print Genetics

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
Nature of test
mutation test

Veterinary Genetics Laboratory

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC
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. Pubmed reference: 19883468. DOI: 10.1111/j.1463-5224.2009.00735.x. (2009)

VetGen LLC

Link to GTP
Gene Name
HSF4
Mutation
g.85286582_3insC

Genomia s.r.o

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_85286583insC
Nature of test
mutation test

GenSol Diagnostics

Link to GTP
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_85286583insC
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