OMIA:002243-9913 : Ichthyosis, DSP-related in Bos taurus (taurine cattle) |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 125647 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Häfliger et al. (2022) report a Scottish Highland calf with "combined lesions compatible with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects associated with a DSP missense variant as the most likely underlying cause."
Molecular basis: Häfliger et al. (2022): "Whole-genome sequencing of the affected calf and comparison of the data with control genomes was performed. A search for private variants in known candidate genes for skin phenotypes including genes related with erosive and hyperkeratotic lesions revealed a single homozygous protein-changing variant, DSP: c.6893 C>A, or p.Ala2298Asp. ... Sanger sequencing confirmed the variant was homozygous in the affected calf and heterozygous in both parents."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Häfliger et al. (2022): "A 2-weeks-old purebred Scottish Highland calf was referred because of a syndrome resembling congenital ichthyosis. The clinical phenotype included diffuse alopecia and a markedly lichenified skin covered with large and excessive scales. Additionally, conjunctivitis and ulceration of the cornea were noted."
Pathology: Häfliger et al. (2022): "Post-mortem examination revealed deep fissures in the diffusely thickened tongue and histopathological findings in the skin confirmed the clinical diagnosis."
Prevalence: Häfliger et al. (2022) "genotyping of 257 Scottish Highland animals from Switzerland revealed an estimated allele frequency of 1.2%. The mutant allele was absent in more than 4800 controls from various other cattle breeds."
Breed:
Highland (Cattle) (VBO_0000234).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| DSP | desmoplakin | Bos taurus | 23 | NC_037350.1 (47868167..47824109) | DSP | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1408 | Highland (Cattle) | Ichthyosis, DSP-related | DSP | missense | Naturally occurring variant | ARS-UCD1.2 | 23 | g.47826600G>T | c.6893C>A | p.(A2298D) | NM_001192368.2; NP_001179297.1 | rs5385033307 | 2022 | 34996433 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002243-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2022 | Häfliger, I.M., Koch, C.T., Michel, A., Rüfenacht, S., Meylan, M., Welle, M.M., Drögemüller, C. : |
| DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects. BMC Vet Res 18:20, 2022. Pubmed reference: 34996433. DOI: 10.1186/s12917-021-03113-3. |
Edit History
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Imke Tammen2 on 11 Jan 2022