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Progressive Retinal Atrophy 4 (PRA4) - Lhasa Apso
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy 4 (PRA4) - Lhasa Apso
OMIA
2289
Gene Name
IMPG2
Mutation
LINE insertion upstream of IMPG2
Test Type
Genetic Disease/Disorder
Details
Progressive Retinal Atrophy 4 is one of a number of PRAs to have been discovered in many breeds of dog. Like many other PRAs, this appears to be a breed-specific disease/mutation. Symptoms are typical of other PRAs in that the dog has normal vision at birth, and then progresses to complete blindness. This condition has previously been identified in the breed using clincal eye examinations, the data from which this DNA test was developed. Discovered by the Animal Health Trust (AHT), the PRA4 mutation has so far been found to be unique to the Lhasa Apso. According to the AHT, 354 dogs tested from the UK population generated a carrier frequency of approximately 17% in their UK DNA testing cohort between 2017-18 test development. ?The frequency of the PRA4 allele is 0.09 which corresponds to the frequency of affected Lhasa Apso?s in this UK population as 0.009.?[From AHT website, Feb 2020]. Autosomal Recessive inheritance.
Published
Hitti-Malin, R. J., L. M. Burmeister, S. L. Ricketts, T. W. Lewis, L. Pettitt, M. Boursnell, E. C. Schofield, D. Sargan and C. S. Mellersh (2020). "A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs." BMC Genet 21(1): 100.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Phene Discovery
From the Animal Health Trust
Breed Specific Info
Researched Breeds
Lhasa Apso
Breed-specific 1
Lhasa Apso
Breed-specific 1 Details
Publication demonstrates strong statistical association between this variant and PRA in the Lhasa Apso. This form of PRA has been termed PRA4 by the authors.
