Spondylocostal Dysostosis, Autosomal Recessive
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
            
                
                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  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Spondylocostal Dysostosis, Autosomal Recessive
            
        
        
        
            OMIA
        
    
    
            1944
            
        
        
        
            Gene Name
        
    
    
            HES7
            
        
        
        
            Mutation
        
    
    
            c.126delG
            
        
        
        
            Mutation 2
        
    
    
            p.(Thr43ProfsTer24)
            
        
        
        
            Mutation 3
        
    
    
            g.32945846
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Spondylocostal Dysostosis causes gross deformites in puppies. According to researchers Willet et al (2015) this includes: "truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number." Also, "The three affected pups were born stillborn or died within hours of birth...The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body... One of the affected samples had umbilical hernia and another had a cleft hard palate."
            
        
        
        
            Details 2
        
    
    
            As reported by Willet et al. (2015), "The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number." Also, "The three affected pups were born stillborn or died within hours of birth. Gross external examination of the pups by the attending veterinarian revealed a reduction in body length compared with normal littermates (data not available). The hindquarters of affected pups were reduced in size compared to the forequarters, giving an overall comma-like morphology to the body". One of the affected samples had umbilical hernia and another had a cleft hard palate. (Willet et al. 2015, from OMIA)
            
        
        
        
            Published
        
    
    
            Willet, C.E., Makara, M., Reppas, G., Tsoukalas, G., Malik, R., Haase, B., Wade, C.M. : Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs. PLoS One 10:e0117055, 2015. Pubmed reference: 25659135. DOI: 10.1371/journal.pone.0117055.
            
        
        
        
            Body/System/Process
        
    
    
            Skeletal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Miniature Schnauzer
            
        
        
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