OMIA 002128-9913 : Anhidrotic ectodermal dysplasia, EDAR-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 129490 , 224900

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Molecular basis: Bourneuf et al. (2017): a de novo likely causal variant in Charolais is single-base insertion in EDAR, resulting in a frameshift variant g.44462236_44462237insC; p.P161RfsX97

Breed: Charolais.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDAR ectodysplasin A receptor Bos taurus 11 NC_037338.1 (44555165..44607352) EDAR 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
Charolais Anhidrotic ectodermal dysplasia, EDAR-related EDAR insertion, small (<=20) UMD3.1 11 g.44462236_44462237insC p.P161RfsX97 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 19 Sep 2017