OMIA 001542-9940 : Hypophosphatemic rickets, autosomal recessive, 1 in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 241520

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Inherited rickets

Mapping: Using the ovine SNP50 BeadChip, Zhao et al. (2011) mapped this disorder to a 6Mb region of chromosome OAR6.

Molecular basis: Zhao et al. (2011) reported this disorder in Corriedale sheep as being due to a nonsense mutation in exon 6 of the DMP1 gene.

Breed: Corriedale.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMP1 dentin matrix acidic phosphoprotein 1 Ovis aries - no genomic information (-..-) DMP1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
Corriedale Hypophosphatemic rickets, autosomal recessive, 1 DMP1 nonsense (stop-gain) c.250C>T p.R145* 2011 21747952

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.
2011 Dittmer, K.E., Howe, L., Thompson, K.G., Stowell, K.M., Blair, H.T., Cockrem, J.F. :
Normal vitamin D receptor function with increased expression of 25-hydroxyvitamin D(3)-24-hydroxylase in Corriedale sheep with inherited rickets. Res Vet Sci 91:362-9, 2011. Pubmed reference: 20965534. DOI: 10.1016/j.rvsc.2010.09.017.
Dittmer, KE., Firth, EC., Thompson, KG., Marshall, JC., Blair, HT. :
Changes in bone structure of Corriedale sheep with inherited rickets: A peripheral quantitative computed tomography assessment. Vet J 187:369-73, 2011. Pubmed reference: 20117029. DOI: 10.1016/j.tvjl.2009.12.025.
Zhao, X., Dittmer, K.E., Blair, H.T., Thompson, K.G., Rothschild, M.F., Garrick, D.J. :
A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep. PLoS One 6:e21739, 2011. Pubmed reference: 21747952. DOI: 10.1371/journal.pone.0021739.
Zhao, X., Dittmer, K.E., Rothschild, M.F., Blair, H.T., Thompson, K.G., Garrick, D.J. :
A Genome-Wide Association Study (GWAS) Discovered A Novel Nonsense Mutation In Dmp1 Gene Responsible To Inherited Rickets In Corriedale Sheep Plant & Animal Genomes XIX Conference :Abstract P554, 2011.
2009 Dittmer, KE., Thompson, KG., Blair, HT. :
Pathology of inherited rickets in Corriedale sheep. J Comp Pathol 141:147-55, 2009. Pubmed reference: 19524252. DOI: 10.1016/j.jcpa.2009.04.005.
2007 Thompson, KG., Dittmer, KE., Blair, HT., Fairley, RA., Sim, DF. :
An outbreak of rickets in Corriedale sheep: evidence for a genetic aetiology. N Z Vet J 55:137-42, 2007. Pubmed reference: 17534417. DOI: 10.1080/00480169.2007.36757.

Edit History


  • Created by Frank Nicholas on 11 Feb 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 12 Mar 2012
  • Changed by Frank Nicholas on 25 Nov 2013