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

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 156500 (trait) , 120110 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0007983: Schmid metaphyseal chondrodysplasia

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2000

Species-specific description: In a single paper, Nielsen et al. (2000) reported a new form of dwarfism in pigs, and its causative mutation.

Inheritance: Nielsen et al. (2000) reported autosomal dominant inheritance.

Mapping: An initial genome scan with 70 microsatellite markers implicated chromosome SSC1. Mapping with additional SSC1 markers mapped the disorder to 8.3cM from marker Sw781. The authors noted that this region is homologous to human chromosome HSA6q21-22.3, which harbours the gene COL10A1, mutations in which cause Schmid metaphyseal chondrodysplasia, a disorder very similar to the pig disorder. Thus the authors had identified a comparative positional candidate gene.

Molecular basis: Following a comparative positional candidate gene approach (described above in the Mapping section), Nielsen et al. (2000) cloned and sequenced the porcine COL10A1 gene and identified a causative missense mutation, namely "a single G to A transition in exon 3 that results in a Gly-to-Arg substitution, G590R, in the carboxyl terminus of the protein".

Clinical features: The disorder is characterised by "Metaphyseal chondrodysplasia in the long bones" (Nielsen et al., 2000).

Breed: Yorkshire (Pig) (VBO_0001212).
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: