OMIA:002854-9615 : Immunodeficiency, CARD9-related in Canis lupus familiaris (dog) |
Categories: Immune system phene
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Increased susceptibility to Mycobacterium avium complex infection
Inheritance: Mizukami et al. (2024): "Adult Miniature Schnauzers developing progressive systemic MAC infections were related to a common founder, and pedigree analysis was consistent with an autosomal recessive trait."
Mapping: Mizukami et al. (2024): "A genome-wide association study and homozygosity mapping using 8 infected, 9 non-infected relatives, and 160 control Miniature Schnauzers detected an associated region on chromosome 9." ... "There were 118 genes annotated in the ~ 2.5 Mb homozygous segment flanked by the heterozygous markers at positions 47,266,853 and 49,753,465, which we considered as a critical interval for the causal variant". The coordinates of the critical interval refer to the CanFam3.1 assembly.
Molecular basis: Mizukami et al. (2024): " Whole genome sequencing of 2 MAC-infected [Miniature Schnauzer] dogs identified a codon deletion in the CARD9 gene (c.493_495del; p.Lys165del). Genotyping of Miniature Schnauzers revealed the presence of this mutant CARD9 allele worldwide, and all tested MAC-infected dogs were homozygous mutants. Peripheral blood mononuclear cells from a dog homozygous for the CARD9 variant exhibited a dysfunctional CARD9 protein with impaired TNF-α production upon stimulation with the fungal polysaccharide β-glucan that activates the CARD9-coupled C-type lectin receptor, Dectin-1."
Breed:
Miniature Schnauzer (Dog) (VBO_0200896).
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 |
---|---|---|---|---|---|---|
CARD9 | caspase recruitment domain family member 9 | Canis lupus familiaris | 9 | NC_051813.1 (49987891..49997435) | CARD9 | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1692 | Miniature Schnauzer (Dog) | Immunodeficiency, susceptibility to Mycobacterium avium complex | CARD9 | deletion, small (<=20) | CanFam3.1 | 9 | NC_006591.3:g.49115079_49115081del | XM_844178.5:c.493_495del | XP_849271.2: p.(K165del) | 2024 | 38710903 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002854-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Mizukami, K., Dorsey-Oresto, A., Raj, K., Eringis, A., Furrow, E., Martin, E., Yamanaka, D., Kehl, A., Kolicheski, A., Jagannathan, V., Leeb, T., Lionakis, M.S., Giger, U. : |
Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9. Sci Rep 14:10346, 2024. Pubmed reference: 38710903. DOI: 10.1038/s41598-024-61054-x. |
Edit History
- Created by Imke Tammen2 on 08 May 2024
- Changed by Imke Tammen2 on 08 May 2024
- Changed by Tosso Leeb on 08 May 2024