Dyserythropoietic Anaemia and Myopathy Syndrome in English Springer Spaniel

The disease caused by the c.3120delC mutation in the EHBP1L1 gene affects two different organ systems - blood and muscle.

While dyserythropoietic anaemia is characterised by a defect in the development of red blood cells (erythrocytes) in the bone marrow, myopathic syndrome is a clinical condition that arises as a result of a defect in muscle fibres. In affected dogs, a polysystemic disorder is observed that includes progressive muscle weakness, muscle pain, regurgitation, difficulty opening the mouth wide and chewing and swallowing, varying degrees of heart enlargement, fatigue and anemia. Muscle atrophy, weakness, and decreased activity compared to healthy littermates are evident in the first few weeks of life. Complications of the disease may include the development of pneumonia, chronic diarrhea, seizures, and in some cases death occurs shortly after birth; in other cases euthanasia is necessary because of poor health.

The mutation shows autosomal recessive mode of inheritance. It means that the mutation will be expressed only in individuals that inherit the mutant allele from each parent (recessive homozygote). A heterozygote is an individual that inherited the mutant allele from one parent and shows no symptoms and is clinically healthy but can pass the mutant allele to its offspring.

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References:

Østergård Jensen, S., Christen, M., Rondahl, V., Holland, C.T., Jagannathan, V., Leeb, T., Giger, U. : EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes (Basel) 13:1533, 2022. Pubmed reference: 36140701