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Alpha Fucosidosis
Breed: English Springer Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Alpha Fucosidosis
OMIA
396
Gene Name
FUCA1
Mutation
c.379_392del14bp
Test Type
Genetic Disease/Disorder
Details
Signs include behavioral changes and signs of physical dysfunction that, on average, start 1-2 years of age, with some signs starting as early as 4-6 months. Affected dogs exhibit abnormal behavior patterns, may be aggressive or depressed, and appear "forgetful". Other signs include appearing unsteady on their feet, blindness and deafness, and may suffer from gastrointestinal problems. The disease can appear to progress rapidly, and death or euthanasia usually occurs within a few weeks from the onset of clinical signs. Nearly all dogs with this disease die or are put to sleep by 4 years.
Details 2
Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and blindness. Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs may first be noticeable. However, diagnosis may only be picked up later, 1-2 years of age. Affected dogs usually die or are euthanized by 3-4 years of age.
Published
Skelly, B.J., Sargan, D.R., Herrtage, M.E., Winchester, B.G. : The molecular defect underlying canine fucosidosis Journal of Medical Genetics 33:284-288, 1996. Pubmed reference: 8730282.
Published 2
Holmes, N.G., Acheson, T., Ryder, E.J., Binns, M.M. : A PCR-based diagnostic test for fucosidosis in English Springer Spaniels Veterinary Journal 155:113-114, 1998.
Published 3
Skelly, B.J., Sargan, D.R., Winchester, B.G., Smith, M.O., Herrtage, M.E., Giger, U. : Genomic screening for fucosidosis in English Springer Spaniels American Journal of Veterinary Research 60:726-729, 1999. Pubmed reference: 10376901.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
English Springer Spaniel
HSP Test-Specific Data
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del
Mutation Comment
g.75665866_75665879del
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
This test is outsourced to:
Weatherby's
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Sargan, D.R., Herrtage, M.E., Winchester, B.G. : The molecular defect underlying canine fucosidosis Journal of Medical Genetics 33:284-288, 1996. Pubmed reference: 8730282.
Application in the Breed
Carriers may be bred to normal animals (N/af x N/N) . Offspring should be tested before breeding . Mo breeding of two carriers (N/af x N/af) nor of affected animals (af/af). Problems walking, temperament change, the loss of learned behaviours, blindness, muscle wasting. Death or euthanized by 4 years of age
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Fucosidosis
Gene Name
FUCA1
Mutation
c.379_392del14bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Sargan, D.R., Herrtage, M.E., Winchester, B.G. : The molecular defect underlying canine fucosidosis Journal of Medical Genetics 33:284-288, 1996. Pubmed reference: 8730282.
Application in the Breed
Carriers may be bred to normal animals (N/af x N/N) . Offspring should be tested before breeding . Mo breeding of two carriers (N/af x N/af) nor of affected animals (af/af). Problems walking, temperament change, the loss of learned behaviours, blindness, muscle wasting. Death or euthanized by 4 years of age
Inheritance
AR
GTP Notes
Awaiting validation
FCI Number
125
GTP Breed
English Springer Spaniel
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
FUCA1
Mutation
c.379_392del14bp
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