OMIA:002243-9615 : Ichthyosis, DSP-related in Canis lupus familiaris (dog) |
In other species: taurine cattle
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 125647 (gene) , 615821 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Ichthyosis, syndromic
Molecular basis: Kiener et al. (2024) "sequenced the whole genome of the affected [miniature poodle] dog and searched for potentially causative variants in functional candidate genes for the observed phenotype. The analysis revealed a heterozygous in-frame deletion in DSP, NC_049256.1:g.8804542_8804544del resulting from a de novo mutation event as evidenced by genotyping leukocyte DNA from both parents. The 3 bp deletion is predicted to remove one aspartic acid without disrupting the open reading frame (XM_038584124.1:c.1821_1823del, XP_038440052.1:p.(Asp608del))."
Clinical features: Kiener et al. (2024) "investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth."
Pathology: Histopathological examination of the affected miniature poodle revealed mild epidermal hyperplasia and lamellar orthokeratotic hyperkeratosis (Kiener et al. 2024)
Breed:
Poodle, Miniature (Dog) (VBO_0201051).
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 |
---|---|---|---|---|---|---|
DSP | desmoplakin | Canis lupus familiaris | 35 | NC_051839.1 (7562265..7607463) | DSP | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1710 | Poodle, Miniature (Dog) | Ichthyosis, syndromic | DSP | deletion, small (<=20) | Naturally occurring variant | UU_Cfam_GSD_1.0 | 35 | NC_049256.1:g.8804542_8804544del | XM_038584124.1:c.1821_1823del | XP_038440052.1:p.(N608del) | de novo variant in one dog | 2024 | 39136317 |
Clinical synopsis/links to phenotypes
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002243-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Kiener, S., Lehner, G., Jagannathan, V., Welle, M., Leeb, T. : |
Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. Anim Genet , 2024. Pubmed reference: 39136317. DOI: 10.1111/age.13467. |
Edit History
- Created by Imke Tammen2 on 18 Aug 2024
- Changed by Imke Tammen2 on 18 Aug 2024
- Changed by Imke Tammen2 on 19 Aug 2024
- Changed by Imke Tammen2 on 30 Sep 2024