Peer-reviewed veterinary case report
Dental, bone, and eye problems in Cane Corso dogs caused by gene
By Christen, Matthias et al.·Published in Genes·2021·Institute of Genetics·View original on PubMed →
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Original publication title: Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA).
- Species:
- dog
Plain-English summary
A group of Cane Corso dogs was found to have a hereditary condition called dental-skeletal-retinal anomaly (DSRA), which causes brittle and discolored teeth, abnormal growth, and progressive vision loss. Researchers identified a specific genetic mutation that affects a gene important for collagen and other protein production, leading to these symptoms. This genetic issue appears to be inherited in an autosomal recessive manner, meaning both parents must carry the gene for their puppies to be affected. Unfortunately, there is currently no treatment to reverse the effects of this condition, so managing the symptoms is essential for affected dogs.
People also search for: Cane Corso dental problems · dog vision loss treatment · hereditary dog diseases · brittle teeth in dogs · Cane Corso genetic conditions
Abstract
We investigated a hereditary syndrome in Cane Corso dogs. Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss. Combined linkage and homozygosity mapping delineated a 5.8 Mb critical interval. The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected thegene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4del, leads to skipping of two exons from the wild type transcript, XM_005640835.3:r.3712_3822del. Genotypes at the variant were consistent with monogenic autosomal recessive mode of inheritance in a complete family and showed perfect genotype-phenotype association in 18 affected and 22 unaffected Cane Corso dogs.variants had previously been shown to cause related phenotypes in humans and mice. Our data in dogs together with the existing functional knowledge ofvariants in other mammalian species suggest thesplice defect and a near complete loss of gene function as causative molecular pathomechanism for the DSRA phenotype in the investigated dogs.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34680893/