Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease.

Kiener, Sarah; Yang, Ching; Rich, Naomi; Jagannathan, Vidhya; Mauldin, Elizabeth A; Leeb, Tosso (2023). Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease. Animal genetics, 54(4), pp. 558-561. Wiley 10.1111/age.13314

Preview

Text Animal_Genetics_-_2023_-_Kiener_-_Heterozygous_ATP2A2_missense_variant_identified_in_a_Shih_Tzu_with_Darier_disease.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (2MB) | Preview

Darier disease is caused by heterozygous loss of function variants in the ATP2A2 gene encoding the endoplasmic/sarcoplasmic reticulum Ca2+ pump ATP2A2. Defective intracellular calcium signaling in the epidermis results in a loss of desmosomal adhesion and the development of characteristic skin lesions. In this study, we investigated a Shih Tzu that developed erythematous papules on the ventrum and, over time, the dorsal neck and a nodule in the right ear canal with secondary ear infection. Histopathologic examination demonstrated discrete foci of acantholysis affecting suprabasal layers of the epidermis. Whole genome sequencing of the affected dog identified a heterozygous missense variant, p.N809H, affecting an evolutionarily conserved amino acid residue of the ATP2A2 protein. The highly characteristic clinical and histopathologic findings together with a plausible variant in the only known functional candidate gene establish the diagnosis of canine Darier disease in the studied dog and highlight the potential of genetic analyses as complementary diagnostic approach in veterinary medicine.

Interest & Impact

Downloads

19 since deposited on 09 Mar 2023
19 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item