Abstract:Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants, indicating additional gen… Show more
“…We were very fortunate to have received several submissions from the prolific canine research laboratory of Hannes Lohi (Niskanen et al 2021;Kyöstilä et al 2021;Kaukonen et al 2021;Hytönen et al 2021a,b). In the first paper, Niskanen et al (2021) investigated the known variant in DVL2 associated with kinked tails and brachycephaly in bulldog breeds in an additional 1954 dogs from 15 breeds.…”
Section: Novel Findings Identified For Inherited Diseases In Dogsmentioning
confidence: 99%
“…Although many mutations are known, the Lapponian Herder can have a PRA not explained by these known variants. In this special issue, Kaukonen et al (2021) identify a homozygous missense mutation in the IFT122 gene that may explain the genetic basis for some of the PRA in this breed.…”
Section: Novel Findings Identified For Inherited Diseases In Dogsmentioning
“…We were very fortunate to have received several submissions from the prolific canine research laboratory of Hannes Lohi (Niskanen et al 2021;Kyöstilä et al 2021;Kaukonen et al 2021;Hytönen et al 2021a,b). In the first paper, Niskanen et al (2021) investigated the known variant in DVL2 associated with kinked tails and brachycephaly in bulldog breeds in an additional 1954 dogs from 15 breeds.…”
Section: Novel Findings Identified For Inherited Diseases In Dogsmentioning
confidence: 99%
“…Although many mutations are known, the Lapponian Herder can have a PRA not explained by these known variants. In this special issue, Kaukonen et al (2021) identify a homozygous missense mutation in the IFT122 gene that may explain the genetic basis for some of the PRA in this breed.…”
Section: Novel Findings Identified For Inherited Diseases In Dogsmentioning
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