Published this week in the scientific journal “Skeletal Muscle”, CAG’s most recent research paper identifies two mutations behind limb-girdle muscular dystrophy (LGMD) in Boston terriers. The full text of the article “Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers” can be read here: Cox et al., 2017
When a genetic disease is found in a breed, it is usually assumed that all dogs will share the same causative mutation. Interestingly, whole exome sequencing showed that although the two families of Boston terriers had the same clinical symptoms, they had different mutations in the sarcoglycan-δ (SGCD) gene. CAG has developed genetic tests for the disease (D345 – Boston terrier LGMD).
The mutations were not found in 200 other Boston terriers screened, so it is believed that the mutations are “private”, and are not spread through the general population. Routine genetic testing for the disease is therefore not required, but any Boston terriers exhibiting a similar muscle disease should be screened for the mutations.
This work was done in collaboration with laboratories at Clemson University, University of California San Diego, and the University of Helsinki.