Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

Conclusion: We report the occurrence of CNGB3-achromatopsia in a new canine breed, the MAS. The CNGB3-deletion allele previously described in the AM was also observed in a homozygous state in the affected MAS, as well as in a heterozygous carrier state in a Siberian husky and Alaskan sled dogs. All affected alleles were shown to be IBD, strongly suggesting an affected founder effect. Since the MAS is not known to be genetically related to the AM, other breeds may potentially carry the same cd-allele and be affected by achromatopsia.
Source: BMC Genetics - Latest articles - Category: Genetics & Stem Cells Authors: Source Type: research