Hungarian Puli dogs (Canis familiaris) with symptoms observed in human Bardet-Biedl syndrome including PRA

Hungarian Puli dogs (Canis lupus familiaris) with progressive retinal atrophyWhole genome sequencing on the Illumina HiSeq 2000 platform of two affected Hungarian Puli dogs and two of their parents to identify the underlying genetic cause of progressive retinal atrophy (PRA). Cases were diagnosed with progressive retinal atrophy by veterinary ophthalmologists based on vascular attenuation in the eye, hyper-reflectivity and reduced myelination in the optic nerve head. Comprehensive screening of 53 known, associated or causative PRA genes was performed but plausible variants were identified. Further mapping and screening in this family segregating PRA may reveal potentially novel canine PRA genes.