Golden Retriever Muscular Dystrophy (GRMD)
Acronym: | GRMD, DMD |
Gene: | DMD |
Mutation: | c.531-2A>G |
Inheritance: | X-Linked recessive |
Sample type: | Cheek Swab, Whole Blood (EDTA) |
Genetics and characteristics
Golden retriever muscular dystrophy (GRMD) is a progressive, fatal disease characterized by degeneration of skeletal and cardiac muscle, but some muscles paradoxically undergo hypertrophy. Signs of the disease show soon after birth because affected pups are often ineffectual sucklers. Although all Golden retriever muscular dystrophy (GRMD) dogs feature a total absence of dystrophin, phenotypic variability is frequently observed. Some severely-affected pups survive only a few days, while other dogs that survive for years with mild clinical involvement have also been documented.
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 (female) or hemizygous state (male) (i.e. only healthy allele on X chromosome). 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 mutated allele in homozygous state (female) or hemizygous state (male) (i.e. only mutated allele on X chromosome). 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.
** Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Brinkmeyer-Langford, C., and Kornegay, J.N. (2013). Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model. Curr Genomics 14, 330–342.
Kornegay, J.N., Bogan, J.R., Bogan, D.J., Childers, M.K., Li, J., Nghiem, P., Detwiler, D.A., Larsen, C.A., Grange, R.W., Bhavaraju-Sanka, R.K., et al. (2012). Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mammalian Genome 23, 85–108.