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Primary Hereditary Cataract (PHC)

Breed: French Bulldog

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

General

Disease Name
Primary Hereditary Cataract (PHC)
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.
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.

Breed Specific Info

Breed-specific 1
Australian Shepherd, Boston Terrier, Staffordshire Bull Terrier

Breed Specific Data

Animal Genetics Inc

GTP Name
Animal Genetics Inc
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
FCI Number
101
GTP Breed
French Bulldog

Animal Health Trust (UK)

GTP Name
Animal Health Trust (UK)
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
FCI Number
101
GTP Breed
French Bulldog

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
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

Genomia s.r.o

GTP Name
Genomia s.r.o
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
FCI Number
101
GTP Breed
French Bulldog

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
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
FCI Number
101
GTP Breed
French Bulldog

Paw Print Genetics

GTP Name
Paw Print Genetics
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
FCI Number
101

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
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)

VHL Genetics

GTP Name
VHL Genetics
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

GenSol Diagnostics

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

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

DNA My Dog

GTP Name
DNA My Dog
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
This test is outsourced to:
Orivet
FCI Number
101
GTP Breed
French Bulldog

VetGen LLC

GTP Name
VetGen LLC
Gene Name
HSF4
Mutation
g.85286582_3insC

The Kennel Club

GTP Name
The Kennel Club
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_85286583insC
This test is outsourced to:
Weatherby's

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

BioBank AS

GTP Name
BioBank AS
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

CMSCH

GTP
GTP Name
CMSCH
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

INNO

GTP
GTP Name
INNO
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Cataract (HC), EHC, Early onset hereditary cataract, Juvenile hereditary cataract
Gene Name
HSF4
Mutation
g.85286582_3insC; g.85286582_85286583insC
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