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Dog DNA testing illustration

Progressive Retinal Atrophy (BBS4-PRA) – Hungarian Puli

Code: H394

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.

General information

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. In the Hungarian Puli, a mutation in the Bardet-Biedl Syndrome 4 (BBS4) gene was found associated with PRA. BBS4 is known to cause Bardet-Biedl Syndrom (BBS) which causes a PRA phenotype.

Specifications

Breeds

Hungarian Puli
Gene

BBS4
Chromosome

30
Mutation

c.58A>T
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

BBS4

Clinical features

Clinical signs include night blindness and loss of peripheral vision. In addition to retinal degeneration, in BBS4 affected dogs obesity and affected spermatoza flagella are also observed as symptoms.

References

Pubmed ID: 28533336

Year published: 2017

Omia ID: 2045

Omia variant ID:

Turnaround information

  • 15 working days