OMIA:002659-9615 : Ichthyosis, non-epidermolytic, SDR9C7-related in Canis lupus familiaris (dog)

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609769 (gene) , 617574 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Species-specific description: Kiener et al. (2023) "investigated a 9-month-old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non-epidermolytic ichthyosis and a genetic defect was suspected. [The authors] therefore sequenced the genome of the affected dog and compared the data with 564 genetically diverse control genomes. Filtering for private variants identified a homozygous missense variant in SDR9C7, c.454C>T or p.(Arg152Trp)."

Breed: Chihuahua (Dog) (VBO_0200338).
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
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 Canis lupus familiaris 10 NC_051814.1 (1131692..1123804) SDR9C7 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
1540 Chihuahua (Dog) Ichthyosis, non-epidermolytic SDR9C7 missense Naturally occurring variant UU_Cfam_GSD_1.0 10 g.1471341G>A c.454C>T p.(R152W) XM_038549505.1; XP_038405433.1 2023 36967672

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002659-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Kiener, S., Castilla, E., Jagannathan, V., Welle, M., Leeb, T. :
SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. Anim Genet , 2023. Pubmed reference: 36967672. DOI: 10.1111/age.13319.

Edit History


  • Created by Imke Tammen2 on 28 Mar 2023
  • Changed by Imke Tammen2 on 28 Mar 2023