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Dyserythropoietic Anemia and Myopathy Syndrome in Labrador Retriever

The disease caused by the nonsense mutation c.388C>T in the EHBP1L1 gene affects two different organ systems - blood and muscle.

Dyserythropoietic anemia is characterized by a defect in the production of red blood cells (erythrocytes) in the bone marrow. In Labrador retrievers, there is a marked microcytosis (reduced erythrocytes) leading to anaemia, which is manifested by weakness, shortness of breath, fatigue and dizziness.

Myopathic syndrome is a clinical condition that arises due to muscle fibre disorder and leads to muscle weakness, fatigue and muscle pain. There is also noticeable muscle atrophy in affected dogs.

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.

References:

Shelton, G.D., Minor, K.M., Guo, L.T., Thomas-Hollands, A., Walsh, K.A., Friedenberg, S.G., Cullen, J.N., Mickelson, J.R. : An EHPB1L1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. Genes (Basel) 13:1427, 2022. Pubmed reference: 36011338

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Labrador Retriever