OMIA:002623-9615 : Ciliary dyskinesia, primary, STK36-related in Canis lupus familiaris (dog) |
Categories: Respiratory system phene , Cellular phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607652 (gene) , 619436 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Christen et al. (2023): "Whole genome sequencing data from the affected dog was obtained and searched for variants in PCD candidate genes that were not present in 918 control genomes from different breeds. This revealed a homozygous single base pair exchange at a splice site of STK36, XM_038585732.1:c.2868-1G>A. The mutant allele was absent from 281 additionally genotyped Australian Shepherd dogs. RT-PCR confirmed aberrant splicing in the affected dog with the skipping of exon 20 and the insertion of a cryptic exon, which is predicted to lead to a premature stop codon and truncation of 36% of the STK36 wild-type open reading frame, XP_038441660.1:(p.Met957Profs*11)."
Clinical features: Christen et al. (2023) "investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge." Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023).
Pathology: Christen et al. (2023): "A transmission electron microscopy investigation led to the diagnosis of PCD with central pair defect, in which the normal 9:2 arrangement of respiratory cilia was altered and reduced to a 9:0 arrangement."
Breed:
Australian Shepherd (Dog) (VBO_0200095).
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 |
---|---|---|---|---|---|---|
STK36 | serine/threonine kinase 36 | Canis lupus familiaris | 37 | NC_051841.1 (25288815..25313775) | STK36 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1527 | Australian Shepherd (Dog) | Primary ciliary dyskinesia, STK-related | STK36 | splicing | Naturally occurring variant | UU_Cfam_GSD_1.0 | 37 | g.25167072G>A | c.2868-1G>A | p.(M957Pfs*11) | XM_038585732.1; XP_038441660.1 | 2023 | 36786090 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002623-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2023 | Christen, M., Ludwig-Peisker, O., Jagannathan, V., Hetzel, U., Schönball, U., Leeb, T. : |
STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Anim Genet 54:412-415, 2023. Pubmed reference: 36786090. DOI: 10.1111/age.13306. |
Edit History
- Created by Imke Tammen2 on 17 Feb 2023
- Changed by Tosso Leeb on 18 Feb 2023