Dyserythropoietic anemia and myopathy (DAMS)

Mutations in the EHBP1L1 gene cause DAMS in the breeds Labrador Retriever and English Springer...lisää
A mutation in the EHBP1L1 gene was found to cause Dyserythropoietic anemia and myopathy (DAMS) in the breed Labrador Retriever. Clinical symptoms are muscle atrophy, pelvic limb weakness and regurgitation. Blood examination showed marked microcytosis, inappropriate metarubricytosis, erythrocyte abnormalities and mild anemia. Signs of myopathy including megaoesophagus were detected at approximately 5 years of age, but affected dogs showed a history of microcytosis and erythrocyte abnormalities.
Another variant in the EHBP1L1 gene was found to cause DAMS in the breed English Springer Spaniel. In this breed, the disease shows an early onset of anaemia, megaoesophagus, cardiomyopathy and generalized slowly progressive muscle atrophy.
Despite the variable clinical symptoms both breeds showed similar changes in erythrocyte morphology and muscle histopathology.
autosomal recessive
Test duration
3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)
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