/ 0

Store

Spondylocostal Dysostosis (Miniature Schnauzer Type)

$50

(ONLINE PRICE)

ADD TO CART

Test Overview:

Spondylocostal Dysostosis is an inherited skeletal disorder affecting dogs. Puppies with this condition are born dead or die shortly after birth. Affected puppies will have multiple skeletal abnormalities of the spinal column and ribs and their hindquarters are less developed than their forequarters. These abnormalities cause the spinal column to be shortened and give them a comma-like shape. They may also display other congenital abnormalities such as umbilical hernias and cleft palates.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

Hes family bHLH transcription factor 7 (HES7) Chromosome 5

Variant Detected:

chr5:32945846: 1 bp deletion (del G)

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 of the HES7 gene will reliably determine if a dog is a genetic carrier of Spondylocostal Dysostosis.

Research Citation(s):

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. PLoS One. 2015 Feb 6;10(2):e0117055. [PubMed: 25659135]

Associated Breed(s):

Miniature Schnauzer, Schnoodle,

##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##