Skeletal dysplasia

Symptoms

According to a study in a litter of British Shorthair, the first clinical signs were observed around 8 weeks of age, manifesting as progressive paraparesis (weakness) in the hind limbs. As the disease progresses, severe spinal deformities such as lordosis and scoliosis may be observed, along with myelopathy in the thoracolumbar region, affecting the cat's mobility. In addition, some cats may develop digestive problems due to reduced intestinal motility.

Disease Management

The management of skeletal dysplasia in cats is based on early diagnosis by clinical evaluation and radiographic studies. In severe cases, where vertebral deformities severely compromise mobility and cause significant suffering, euthanasia may be necessary.

Technical report

Skeletal dysplasia in cats is an inherited disorder that affects bone development and can cause spinal deformities, ataxia and intestinal motility problems. In the British Shorthair breed, a specific mutation has been identified in the LTBP3 gene (c.158delG, p.Gly53Afs*16), which generates a premature misreading in the synthesis of the LTBP3 protein, probably preventing the production of a functional version of this protein. LTBP3 is essential for the signaling of transforming growth factor beta (TGF-β), a key regulator in bone growth. Its alteration reduces TGF-β activation, affecting cell proliferation and proper osteogenic differentiation. Previous studies have linked LTBP3 deficiency with skeletal dysplasias in humans and animal models, characterized by short stature, dental anomalies and bone malformations similar to those observed in affected cats.

Most affected breeds

Brit&aacute

Bibliography

Rudd Garces G, Knebel A, Hülskötter K, et al. LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes (Basel). 2021 Nov 29