LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia.

ABSTRACT: We investigated a highly inbred family of British Shorthair cats in which two offspring were affected by deteriorating paraparesis due to complex skeletal malformations. Radiographs of both affected kittens revealed vertebral deformations with marked stenosis of the vertebral canal from T11 to L3. Additionally, compression of the spinal cord, cerebellar herniation, coprostasis and hypogangliosis were found. The pedigree suggested monogenic autosomal recessive inheritance of the trait. We sequenced the genome of an affected kitten and compared the data to 62 control genomes. This search yielded 55 private protein-changing variants of which only one was located in a likely functional candidate gene, LTBP3, encoding latent transforming growth factor β binding protein 3. This variant, c

SUBMITTER: Rudd Garces G 

PROVIDER: S-EPMC8701722 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature