OMIA 002243-9913 : Ichthyosis, DSP-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 125647 (gene)

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."

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: Scottish Highland.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DSP desmoplakin Bos taurus 23 NC_037350.1 (47868043..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 Scottish Highland 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 2022 34996433

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