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

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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
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

Variant Phenotype(s) References (Pubmed ID)
1710 MP:0001510: abnormal coat appearance
MP:0000414: alopecia
MP:0030608: decrease tooth number
MP:0000580: deform nail
MP:0001222: epidermal hyperplasia
HP:0004528: generalize hypotrichosis
HP:0000668: hypodontia
MP:0013466: keratoconjunctivitis sicca
MP:0009675: orthokeratosis
HP:0025080: Orthokeratotic hyperkeratosis
HP:0000704: periodontitis
MP:0009792: seborrheic dermatitis
MP:0000416: sparse hair
HP:0030804: trachyonychia
39136317

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
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