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Bardet-Biedl Syndrome 4
Breed: Puli
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Bardet-Biedl Syndrome 4
OMIA
2045
Gene Name
BBS4
Mutation
c.58A>T
Test Type
Genetic Disease/Disorder
Details
This disorder is a form of progressive retinal atrophy (PRA). Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness. Reported age of diagnosis was 2 years.
Details 2
This disorder is a form of progressive retinal atrophy (PRA). Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness. Reported age of diagnosis was 2 years.
Published
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) 7:2327-2335, 2017. Pubmed reference: 28533336. DOI: 10.1534/g3.117.043109
Published 2
Chew, T., Haase, B., Willet, C.E., Wade, C.M. : Exclusion of known progressive retinal atrophy genes for blindness in the Hungarian Puli. Anim Genet :, 2017. Pubmed reference: 28378943. DOI: 10.1111/age.12553
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Hungarian Puli
HSP Test-Specific Data
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy (PRA) - Bardet-Biedl
Gene Name
BBS4
Mutation
c.58A>T
Nature of test
mutation test
FCI Number
55
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