OMIA 002125-9913 : Neurocristopathy in Bos taurus
Importantly, Bourneuf et al. (2017) also showed how ""Large half-sib pedigrees allow for the mapping of modifier loci in clinically variable syndromes." To this end, they identified a haplotype on a different chromosome (BTA24: 29,068,445-29,893,427) that "has a major positive effect on the clinical presentation of" this disorder in cattle and, by homology, to its human homologue, CHARGE syndrome. The utility of this strategy was confirmed when it was discovered that this haplotype includes "CDH2, which is a target of the CHD7 transcription factor".Molecular basis: Bourneuf et al. (2017): a de novo likely causal variant is the frameshift variant p.K594AfsX29 Clinical features: Bourneuf et al. (2017): "hypotonia . . . , lack of balance and coordination in the days following birth, facial abnormalities, heart defects and growth delay" Breed: Montbeliarde. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHD7||chromodomain helicase DNA binding protein 7||Bos taurus||14||NC_037341.1 (26298023..26488716)||CHD7||Homologene, Ensembl, NCBI gene|
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Montbeliarde||Neurocristopathy||CHD7||deletion, small (<=20)||UMD3.1||14||g.28085731_28085735del||p.(K594Afs*29)||2017||28904385|
|2017||Bourneuf, E., Otz, P., Pausch, H., Jagannathan, V., Michot, P., Grohs, C., Piton, G., Ammermüller, S., Deloche, M.C., Fritz, S., Leclerc, H., Péchoux, C., Boukadiri, A., Hozé, C., Saintilan, R., Créchet, F., Mosca, M., Segelke, D., Guillaume, F., Bouet, S., Baur, A., Vasilescu, A., Genestout, L., Thomas, A., Allais-Bonnet, A., Rocha, D., Colle, M.A., Klopp, C., Esquerré, D., Wurmser, C., Flisikowski, K., Schwarzenbacher, H., Burgstaller, J., Brügmann, M., Dietschi, E., Rudolph, N., Freick, M., Barbey, S., Fayolle, G., Danchin-Burge, C., Schibler, L., Bed'Hom, B., Hayes, B.J., Daetwyler, H.D., Fries, R., Boichard, D., Pin, D., Drögemüller, C., Capitan, A. :|
|Rapid discovery of de novo deleterious mutations in cattle enhances the value of livestock as model species. Sci Rep 7:11466, 2017. Pubmed reference: 28904385. DOI: 10.1038/s41598-017-11523-3.|
- Created by Frank Nicholas on 18 Sep 2017
- Changed by Frank Nicholas on 18 Sep 2017
- Changed by Frank Nicholas on 19 Sep 2017