OMIA 002125-9913 : Neurocristopathy in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 214800

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: 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

Variants

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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
Montbeliarde Neurocristopathy CHD7 deletion, small (<=20) UMD3.1 14 g.28085731_28085735del p.K594AfsX29 2017 28904385

Reference


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