In other species: sheep

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606193 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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: Poodle, Miniature (Dog) (VBO_0201051).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: