OMIA:002125-9913 : Neurocristopathy in Bos taurus (taurine cattle)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 214800 (trait) , 608892 (gene)

Links to relevant human diseases in MONDO:

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

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: Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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 (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 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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002125-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • 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