OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris

In other species: domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600972 , 256050 , 226900 , 222600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific name: Also known as pseudoachondroplastic dysplasia

Inheritance: Stevens (1999) provided evidence for autosomal recessive inheritance.

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_006596.3 (60762065..60666666) SLC13A1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Miniature Poodle Osteochondrodysplasia SLC13A1 deletion, gross (>20) a 130kb 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 Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A., Mortier, G.R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C.M., Offiah, A., Wright, M.J., Savarirayan, R., Nishimura, G., Ramsden, S.C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, A., Briggs, M.D. :
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 33:144-57, 2012. Pubmed reference: 21922596. DOI: 10.1002/humu.21611.
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.
1999 Stevens, J.W. :
Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J 19:53-65, 1999. Pubmed reference: 10847517.
1992 Breur, G.J., Farnum, C.E., Padgett, G.A., Wilsman, N.J. :
Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am 74:516-28, 1992. Pubmed reference: 1583046.
1989 Breur, G.J., Zerbe, C.A., Slocombe, R.F., Padgett, G.A., Braden, T.D. :
Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc 195:606-12, 1989. Pubmed reference: 2777707.
1980 Riser, W.H., Haskins, M.E., Jesyk, P.F., Patterson, D.F. :
Pseudoachondroplastic dysplasia in Miniature Poodles: : clinical, radiologic, and pathologic features. Journal of the American Veterinary Medical Association 176:335-341, 1980. Pubmed reference: 6987200.
1977 Bruno, W., Janik, T. :
What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977.
1966 Lodge, D. :
Two cases of epiphyseal dysplasia. Veterinary Record 79:136–138, 1966.
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.

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  • Created by Frank Nicholas on 12 Jan 2013
  • Changed by Frank Nicholas on 12 Jan 2013