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Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) - English Springer Spaniel Type
| Acronym: | DAMS |
| Gene: | EHBP1L1 |
| Mutation: | c.3120delC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a debilitating blood and muscle disorder first reported in English Springer Spaniel dogs. A single base frameshift deletion in EHBP1L1 gene that leads to an early stop codon and a truncated protein has been identified as a causal factor by Østergård Jensen et al. (2022). The EHBP1L1 protein links Rab8 and BIN1-dynamin complex to generate cell membrane curvature and excise the endocytic vesicle for apical cell transport. Membrane remodelling proteins BIN1 and dynamin are also essential for T-tubule biogenesis during skeletal muscle development, which explains the link between EHBP1L1 deletion and DAMS-characteristic myopathy. There is a high mortality rate in puppies that are homozygous for the truncated EHBP1L1 variant with the majority dying in utero or shortly after birth. Those that do survive show stunted growth, poor skeletal musculature compared with healthy counterparts, muscle pain, limping gait, intolerance of exercise and progressive bodily weakness. Additional symptoms include difficulty swallowing (eating and drinking), vomiting, chronic diarrhea and seizures. Affected puppies also show dyserythropoiesis (development of defective red blood cells) and cardiomyopathy. Functionally and/or morphologically abnormal erythrocytes can enter circulation causing poor oxygenation and anaemia due to increased erythrocyte turnover rate.
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:
Holland, C.T., Canfield, P.J., Watson, A.D., Allan, G.S. (1991). Dyserythropoiesis, polymyopathy, and cardiac disease in three related English springer spaniels. J. Vet. Intern. Med. 5, 151-159.
Østergård Jensen, S., Christen, M., Rondahl, V., Holland, C.T., Jagannathan, V., Leeb, T., Giger, U. (2022). EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes (Basel). 13(9), 1533.