OMIA 001718-9823 : Dwarfism, Schmid metaphyseal chondrodysplasia in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 156500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL10A1 collagen, type X, alpha 1 Sus scrofa 1 NC_010443.5 (81773818..81766829) COL10A1 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.

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
Dwarfism, Schmid metaphyseal chondrodysplasia COL10A1 missense c.G>A p.G590R 2000 11130976

Reference


2000 Nielsen, V.H., Bendixen, C., Arnbjerg, J., Sørensen, C.M., Jensen, H.E., Shukri, N.M., Thomsen, B. :
Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen. Mamm Genome 11:1087-92, 2000. Pubmed reference: 11130976. DOI: 10.1007/s003350010212.

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  • Created by Frank Nicholas on 17 Sep 2012