Skeletal dysplasia (SD)
Skeletal dysplasia (SD)
General description
A mutation in the gene LTBP3 causes skeletal dysplasia in the breed British Shorthair. Symptoms are already shown at the age of 8 weeks in affected kitten and include hind limb paraparesis, deformation of vertebral column, myelopathy and coprostasis. Due to the severity of symptoms, the affected kittens were euthanized.
Breeds
British Shorthair (BSH), Scottish Fold Longhair, Scottish Fold Shorthair
Order details
| Test number | 8808 |
| Abbreviation | SD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Age of onset | 8 weeks |
| Causality | causally |
| Gene | LTBP3 |
| Mutation | DEL |
| Literature | OMIA:002485-9685 |
Detailed description
In the breed British Shorthair, a mutation in the gene LTBP3 was found to cause skeletal dysplasia. First symptoms like hind limb paraparesis were already shown at the age of 8 weeks in affected kittens. Further symptoms like lordosis and scoliosis, myelopathy and reduced motility of the intestine were shown at the age of 10 weeks. A deformation of the vertebral column was seen in radiological examination. Affected kittens showed deteriorating paraparesis, deformation of multiple thoracic vertebral bodies, stenosis of the vertebral canal, compression of the spinal cord tissue and coprostasis. Due to the severity of symptoms, the affected kittens were euthanized.
