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Spondylocostal Dysostosis, Autosomal Recessive

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 in this breed

General

Disease Name
Spondylocostal Dysostosis, Autosomal Recessive
Mutation
c.126delG
Mutation 2
p.(Thr43ProfsTer24)
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.
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