Testing of dogs: Comma defekt (SCD)

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SCD – Spondylocostal Dysostosis - Comma defect

Spondylocostal Dysostosis  (SCD, Comma Defect) is a severe hereditary disease that causes changes in axial skeleton  (spine, ribs) in Miniature Schnauzer.  The disorder is characterized by changes in vertebra shape, so-called hemivertebrae (wedge-shaped vertebrae), and rib anomalies (fusion, and reduction in number, tumour growth). The malformation of the thorax and of the spine affects the respiratory function of lungs and the function of the spine and therefore the affected puppies, due to the severity of skeletal abnormalities, are stillborn or die briefly after birth.  Beside these defects, the newly born puppies show an abnormal reduction in body length, distinctive forehead and limb defects. The comma defect also affects human patients, however, there are some medical treatments to manage this disease.

The comma defect is caused by a deletion mutation in the HES7 gene. This gene is controlled by Notch signalling pathway that plays a crucial role in the development of an individual during embryogenesis and is essential for the proper formation of somites (primitive segments) that give rise to spinal vertebrae.

The mutation that causes the comma defect is inherited autosomal recessively. The disease develops only in individuals that inherited the mutated gene from both parents. These individuals are designated as P/P (positive/positive). The carriers of the mutated gene referred to as N/P (negative/positive) have only one mutated gene from one parent and show no clinical symptoms. However, they pass on this disease to their offspring. Genetic testing can detect the presence of the mutated allele and prevent further spreading of this disease.

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Reference:

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, et al. (2015) Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs.

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT