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: