OMIA 002485-9685 : Skeletal dysplasia, LTBP3-related in Felis catus
At necropsy, the multiple skeletal malformations with shortened legs, deviations of the spine and flattening of the occiput with narrowing of the caudal cranial fossa were corroborated. Parts of the caudal cerebellum and vermis were irreversibly dislocated into the foramen magnum with prominent indented deformation. The thoracic vertebral column showed a mild dorsal bend (kyphosis) with a following, moderate, ventral deformation (lordosis) and a minor lateral deviation (scoliosis) accompanied by a focal stenosis of the spinal canal at T11–12. The ventral cortical laminar bone showed an increased density and thickening up to 1 mm and the woven bone of the vertebral body was irregularly arranged. The ventral cortical laminar bone of the vertebral bodies showed an increased density and thickening up to 1 mm and the woven bone of the vertebral body and femur was irregularly arranged. Except for the compression of the caudal cerebellum, the histopathological examination of the brain was unremarkable. The compression of the thoracic spinal cord was associated with myelin damage accentuated in the dorso-lateral funiculi but also seen in the ventral aspects with dilation of myelin sheaths, axonal swelling (spheroid formation) and degeneration. The coprostasis was caused by annular constrictions of the colon and rectum with distention of anterior aspects. The constricted areas of the intestine showed a marked hypertrophy of the muscle layer with loss of neurons in the submucosal (Meissner) and myenteric (Auerbach) plexus (hypoganglionosis). The thickening of the intestinal wall was accompanied by proliferation of vascularized fibrous connective tissue (granulation tissue) in the submucosa, between the muscle layers as well as the subserosa. Despite the loss of neurons, there was an excessive proliferation of nerve fibers interwoven into the granulation tissue and crossing the muscular layers." (Rudd Garces et al., 2021).Breed: British Shorthair. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LTBP3||latent transforming growth factor beta binding protein 3||Felis catus||D1||NC_058377.1 (108455293..108438015)||LTBP3||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1394||British Shorthair||Skeletal dysplasia, LTBP3-related||LTBP3||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||D1||g.110690432del||c.158del||p.(G53Afs*16)||XM_023240055.1; XP_023095823.1||2021||34946872|
|2021||Rudd Garces, G., Knebel, A., Hülskötter, K., Jagannathan, V., Störk, T., Hewicker-Trautwein, M., Leeb, T., Volk, H.A. :|
|<i>LTBP3</i> Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes (Basel) 12:1923, 2021. Pubmed reference: 34946872. DOI: 10.3390/genes12121923.|
- Created by Tosso Leeb on 14 Dec 2021
- Changed by Tosso Leeb on 14 Dec 2021