OMIA:001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris |
In other species: sheep
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 606193 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: This phene was originally named 'Chondrodysplasia, Texel'
Species-specific name: Osteochondrodysplasia; pseudoachondroplastic dysplasia
Species-specific description: Information relating to this phene was initially listed under OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris
Mapping: A GWAS with 173K SNPs by Neff et al. (2012) on 8 cases and 8 controls implicated a 1.19Mb haplotype at the terminal end of chromosome me CFA14, which included six coding sequences.
Molecular basis: As reported by Neff et al. (2012), "The SNP pattern [from the GWAS] suggested the presence of a spontaneous deletion" which was confirmed by FISH analysis. Further analysis revealed a 130kb deletion which "ablated all but the first exon of SLC13A1, a sodium/sulfate symporter responsible for regulating serum levels of inorganic sulfate".
Clinical features: As summarised by Neff et al. (2012): "Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot . . . . Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae."
Prevalence: As reported by Neff et al. (2012) "A survey of Miniature Poodle dogs from the United States provided an allele frequency of 5%, suggesting a carrier frequency of approximately 10% (assuming HWE and no ascertainment biases in sampling). This frequency may differ among other geographic subpopulations and other varieties of Poodle. Reports of the disorder in European dogs 40–50 years ago suggest the mutation is now broadly distributed."
Breed: Miniature Poodle.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC13A1 | solute carrier family 13 (sodium/sulfate symporter), member 1 | Canis lupus familiaris | 14 | NC_051818.1 (60802007..60697897) | SLC13A1 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 642 | Miniature Poodle | Osteochondrodysplasia | SLC13A1 | deletion, gross (>20) | Naturally occurring variant | CanFam3.1 | 14 | g.60628774_60758561del | c.99+3353_*56671del | XM_005628770.1; a 129788bp deletion which "ablated all but the first exon of SLC13A1" | 2012 | 23300579 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2012 | Neff, M.W., Beck, J.S., Koeman, J.M., Boguslawski, E., Kefene, L., Borgman, A., Ruhe, A.L. : |
| Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PLoS One 7:e51917, 2012. Pubmed reference: 23300579 . DOI: 10.1371/journal.pone.0051917. | |
| 1980 | Riser, W.H., Haskins, M.E., Jezyk, P.F., Patterson, D.F. : |
| Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc 176:335-41, 1980. Pubmed reference: 6987200 . | |
| 1977 | Bruno, W., Janik, T. : |
| What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977. | |
| 1961 | Amlof, J. : |
| On achondroplasia in the dog. Zentralblatt fur Veterinaermed 8:43–56, 1961. | |
| 1959 | Gardner, D. : |
| Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio 77:243-247, 1959. | |
| 1956 | Cotchin, E., Dyce, K. : |
| A case of epiphyseal dsyplasia in a dog. Veterinary Record 68:427–428, 1956. |
Edit History
- Created by Imke Tammen2 on 29 Sep 2021
- Changed by Imke Tammen2 on 29 Sep 2021