Skeletal dysplasia (SD)

LABOKLIN Service ID: 8808

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.

Method	sequencing
Breed list	British Shorthair (BSH), Scottish Fold Longhair, Scottish Fold Shorthair
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the samples in the lab