Spondylocostal dysostosis (Comma defect)
The spondylocostal dysostosis (comma defect) is characterized mainly by segmentation of the spine... more
The spondylocostal dysostosis (comma defect) is a hereditary disease, which is characterized mainly by segmentation of the spine and ribs. The disease is caused by a deletion in the HES7-gene. In addition to the spine and rib defects, newborns exhibit a dispropotional dwarfism. They also have a prominent forehead, an expansive occipital and malformations of the extremities. The malformation of the ribcage lowers chest-volume, which leads to decreased respiratory function. Newborn puppies often die due to suffocation.
3-5 days after arrival of the sample in the lab (in case of sequencing 1-2 weeks)