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Limb Girdle Muscular Dystrophy 1 (LGMD) – Boston Terrier Type
| Acronym: | LGMD |
| Gene: | SGCD |
| Mutation: | g.53353934_53353933del, g.[53262018_53262020delinsCC;53262030_53281432del] |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders that affect muscles, but preferentially voluntary muscles of the shoulders and hips. LGMD has been described in several dog breeds so far, but this specific type affects Boston Terrier dogs. The affected dogs start to show muscle weakness and atrophy in the shoulders and hips at an early age and in some rare cases, they may also show degeneration of other muscles such as the heart and respiratory muscles. The Boston Terrier type of disease is caused by two deletions in the SGCD gene. SGCD is part of a group of six sarcoglycan, proteins that form a complex at the cell membrane of skeletal and cardiac muscle and play an important role in connecting cytoskeleton muscle fiber to the extracellular matrix, preventing damage due to muscle shearing.
The Boston Terrier dog type of limb girdle muscular dystrophy is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. That means Boston Terrier dogs with only one copy of the mutated SGCD gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify affected dogs that carry the mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Cox, M. L., Evans, J. M., Davis, A. G., Guo, L. T., Levy, J. R., Starr-Moss, A. N., Salmela, E., Hytönen, M. K., Lohi, H., Campbell, K. P., Clark, L. A., Shelton, G. D. (2017). Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skeletal muscle, 7(1), 15. https://doi.org/10.1186/s13395-017-0131-0
Deitz, K., Morrison, J. A., Kline, K., Guo, L. T., Shelton, G. D. (2008). Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. Journal of veterinary internal medicine, 22(2), 476–480. https://doi.org/10.1111/j.1939-1676.2008.0080.x