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