Hereditary Myeloperoxidase Deficiency
            Breed: Italian Roughhaired Segugio
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Hereditary Myeloperoxidase Deficiency 
            
        
        
        
            OMIA
        
    
    
            2028
            
        
        
        
            Gene Name
        
    
    
            MPO
            
        
        
        
            Mutation
        
    
    
            p.663Arg*
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            An autoimmune disease. Considered to be autosomal recessive in inheritance. Since the report by Gentilini et al. (2016) involved just one dog from a local dog shelter, they were not able to provide any direct evidence on inheritance. [from OMIA]
            
        
        
        
            Details 2
        
    
    
            "The report by Gentilini et al. (2016) of one affected Italian hound is the first published report of this inherited disorder in any non-laboratory animals species. Since the report by Gentilini et al. (2016) involved just one dog from a local dog shelter, they were not able to provide any direct evidence on inheritance. However, given that this disorder involves homozygosity for an allele at a locus encoding an enzyme, the disorder is most likely to be autosomal recessive....Gentilini et al. (2016): "During routine examinations, we identified a 12-year-old Italian hound dog from the local dog shelter that despite the absence of any evident symptoms of the underlying disease showed primary MPOD in the polymorphonuclear leucocytes and monocytes. This was evident from a complete blood count on an ADVIA 2120 Siemens Analyser with automated MPO staining for differentiation of white blood cells. In typical staining scattergrams, MPO-positive cells, such as neutrophils and monocytes, are clustered within specified areas demarcated by thresholds. The affected dog showed a scattergram typical for MPOD deficiency in humans with all white blood cells consistently aligned on the left in the large unstained cell area. To confirm the diagnosis, the complete blood count was repeated once a month for three consecutive months with identical findings" [from OMIA]
            
        
        
        
            Published 2
        
    
    
            2016 Gentilini, F., Zambon, E., Mancini, D., Turba, M.E. : A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. Anim Genet 47:632-3, 2016. Pubmed reference: 27296514. DOI: 10.1111/age.12463.
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        HSP Test-Specific Data
Wisdom Panel - Kinship
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Wisdom Panel - Kinship
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            MOP
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            198
            
        
        
        
            GTP Breed
        
    
    
            Italian roughhaired Segugio
            
        
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