Ichthyosis, DSP-related
Phenotype Details
- Phene ID
- 4292
- Name
- Ichthyosis, DSP-related
- Phene Name
- N/A
- OMIA ID
- 2243
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1408 | Ichthyosis, DSP-related | 388269365 | 1 | 23 | NC_037350.1:g.47826600G>T | NM_001192368.2:c.6893C>A | NP_001179297.1:p.(A2298D) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Highland (Cattle) | 346 | 9913 | http://purl.obolibrary.org/obo/VBO_0000234 |
Summary
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 Genetics
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."