OMIA 002099-9615 : Ichthyosis, ASPRV1-related in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Molecular basis: Bauer et al. (2017): "Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase). The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro). " The authors showed altered filaggrin processing in the affected dog with the ASPRV1 variant. Filaggrin is important for skin integrity and variants in the filaggrin gene lead to ichthyosis vulgaris in humans.

Clinical features: Bauer et al. (2017) "describe a novel non-epidermolytic form of ichthyosis in a German Shepherd. In this breed, until now, no ichthyosis cases have been reported in the scientific literature. . . . Dermatological examination revealed generalized hypotrichosis and focal areas of alopecia with generalized severe exfoliation of greyish scales and mild erythema. Comedones were seen on the ventral abdomen and in the perivulvar area."

Pathology: Bauer et al. (2017): "Histopathological analysis of four skin biopsies from different body regions revealed a severe laminar to compact orthokeratotic hyperkeratosis extending into the follicular infundibula in all biopsies. The keratin layers were multifocally exfoliating as large scales. The underlying epidermis was mildly hyperplastic. In the biopsy from the inguinal region, the infundibula of the hair follicles were moderately dilated. The histological findings were consistent with a cornification disorder and an inherited non-epidermolytic ichthyosis as possible cause."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASPRV1 aspartic peptidase, retroviral-like 1 Canis lupus familiaris 10 NC_006592.3 (68589753..68586405) ASPRV1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
German Shepherd Dog Ichthyosis, ASPRV1-related ASPRV1 missense CanFam 3.1 c.1052T>C p.L351P 2017 28249031

Reference


2017 Bauer, A., Waluk, D.P., Galichet, A., Timm, K., Jagannathan, V., Sayar, B.S., Wiener, D.J., Dietschi, E., Müller, E.J., Roosje, P., Welle, M.M., Leeb, T. :
A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet 13:e1006651, 2017. Pubmed reference: 28249031. DOI: 10.1371/journal.pgen.1006651.

Edit History


  • Created by Frank Nicholas on 04 Mar 2017
  • Changed by Frank Nicholas on 04 Mar 2017
  • Changed by Tosso Leeb on 09 Mar 2017