OMIA:002125-9913 : Neurocristopathy in Bos taurus (taurine cattle)
Categories: Nervous system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Mapping: From SNP-genotype data of 42 cases and 71 control half-sibs, Bourneuf et al. (2017) mapped this disorder to a 0.7Mb region on BTA14, namely 27,916,840-28,625,324, which includes the candidate causal gene CHD7.
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
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Bourneuf et al. (2017): "hypotonia . . . , lack of balance and coordination in the days following birth, facial abnormalities, heart defects and growth delay"
Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CHD7||chromodomain helicase DNA binding protein 7||Bos taurus||14||NC_037341.1 (26298002..26488620)||CHD7||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|838||Montbéliarde (Cattle)||Neurocristopathy||CHD7||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||14||g.26402250_26402254del||p.(K594Afs*29)||2017||28904385|
Cite this entry
|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
- Changed by Imke Tammen2 on 17 Mar 2022