Complex vertebral malformation
- Phene ID
- 2665
- Name
- Complex vertebral malformation
- Phene Name
- Haplotype HHC
- OMIA ID
- 1340
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2006
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 187 | Complex vertebral malformation | 38909425 | 1 | 3 | NC_037330.1:g.43261945C>A | NM_001105386.1:c.538G>T | NP_001098856.1:p.(V180F) |
| 1181 | de novo mutation in an AI sire | 38909425 | 1 | 3 | NC_037330.1:g.43268369G>T | NM_001105386.1:c.73C>A | NP_001098856.1:p.(R25S) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Montbéliarde (Cattle) | 162 | 9913 | http://purl.obolibrary.org/obo/VBO_0000306 |
Complex vertebral malformation is an inherited syndrome in Holstein-Friesian cattle. CVM has been reported in aborted, premature born, stillborn and neonatal calves. Affected calves have a reduced weight, a misshapen backbone and tendon contractions in the legs. Several other malformations including heart malformations are associated with this syndrome. A DNA test is available in Denmark and the Netherlands. [Imke Tammen: 26 Jan 2002] From a study of 62,602 inseminations involving carrier bulls and daughters of carrier bulls, Nielsen et al. (2003) concluded that 77% of affected foetuses are aborted prior to day 260 of gestation, which is the earliest day from which cases have been diagnosed. This means that approximately 3/4 of affected foetuses are not diagnosed by necropsy [FN: 10 Jan 2003]
Careful examination of the potential effects of mutations in any of the roughly 20 comparative candidate genes (see Mapping section), followed by mapping and sequencing of the most likely candidate gene, led Thomsen et al. (2006) to discover that CVM is caused by a missense mutation (c.559G>T) leading to V180F in the SLC35A3 gene [omia.variant:187], which encodes solute carrier family 35, member A3. Subsequent genotyping of this mutation in large numbers of other cattle confirmed that it is causal. (Mohammad Shariflou 11/11/2006; FN 12 June 2013). Bourneuf et al. (2017) detected SLC35A3 g.43418851G>T p.R25S as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Montbéliarde AI bull. No information was provided on the descendants of this bull.
Cases of CVM studied to date are due to a 559 G>T base substitution in SLC35A3 (solute carrier family 35 member 3). A DNA test is available from the Danish Institute of Agricultural Sciences [Imke Tammen: 26 Jan 2002]. In addition Kanae et al. (2005) developed Polymerase chain reaction-primer introduced restriction analysis (PCR-PIRA) as an alternative method for screening this mutation (Mohammad Shariflou11/11/2006).