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Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) (English Springer Spaniel Type)

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Test Overview:

Test breeding stock for the EHBP1L1 mutation. Avoid breeding two carriers to prevent producing affected puppies. Carrier dogs can be bred to clear dogs, but offspring should be tested before breeding. Maintain genetic diversity while working to reduce the mutation frequency.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

EHBP1L1

Variant Detected:

c.3120delC

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Dyserythropoietic Anemia and Myopathy Syndrome (DAMS).

Research Citation(s):

Østergard 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

Associated Breed(s):

English Springer Spaniel,

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