PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism.

ABSTRACT: Dwarfism phenotypes occur in many species and may be caused by genetic or environmental factors. In this study, we investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes. The pedigree of the dogs presented evidence of monogenic autosomal recessive inheritance; combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb. The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed

SUBMITTER: Rudd Garces G 

PROVIDER: S-EPMC8535654 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature