OMIA 002271-9913 : Immunodeficiency, IL17RA-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613953

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Inheritance: Häfliger et al. (2020): " Pedigree analysis indicated autosomal recessive inheritance. . . . Genotyping of the affected cattle family [with the IL17RA c.180delC variant] confirmed recessive inheritance"

Molecular basis: Häfliger et al. (2020): "Variant calling and filtering against the 1000 Bull Genomes variant catalogue resulted in the detection of a single homozygous protein-changing variant exclusively present in both sequenced genomes. This single-nucleotide deletion in exon 3 of IL17RA on bovine chromosome 5 was predicted to have a deleterious impact on the encoded protein due to a frameshift leading to a truncated gene product."

Clinical features: Häfliger et al. (2020): "The two calves showed retarded growth and suffered from severe ulcerative dermatitis with hyperkeratosis, alopecia furunculosis and subcutaneous abscess formation. Blood analysis showed correspondent leukocytosis with neutrophilia whereas minerals, macro- and micronutrients were within the reference ranges. . . . This IL17RA-associated semi lethal genodermatosis, leading to psoriasis-like skin alterations and immunodeficiency resembling zinc deficiency-like syndrome in Holstein cattle, was not reported before."

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IL17RA interleukin 17 receptor A Bos taurus 5 NC_037332.1 (108807812..108823741) IL17RA Homologene, Ensembl, NCBI gene

Variants

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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.

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
Holstein Immunodeficiency, IL17Ra-related IL17RA deletion, small (<=20) ARS-UCD1.2 5 g.108,813,251delC c.180delC p.(Cys61AlafsTer62) XM_015460734.2: c.180delC; XP_015316220.2: p.(Cys61AlafsTer62) (Häfliger et al., 2020) 2020 32448141

Reference


2020 Häfliger, I.M., Sickinger, M., Holsteg, M., Raeder, L.M., Henrich, M., Marquardt, S., Drögemüller, C., Lühken, G. :
An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency BMC Genetics 21:55, 2020. Pubmed reference: 32448141. DOI: 10.1186/s12863-020-00860-4.

Edit History


  • Created by Frank Nicholas on 26 May 2020
  • Changed by Frank Nicholas on 29 May 2020
  • Changed by Frank Nicholas on 02 Jun 2020