OMIA:002659-9615 : Ichthyosis, non-epidermolytic, SDR9C7-related in Canis lupus familiaris (dog)
Categories: Integument (skin) phene
Links to MONDO diseases:
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)."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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|
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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|
|1540||Chihuahua||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
|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.|
- Created by Imke Tammen2 on 28 Mar 2023
- Changed by Imke Tammen2 on 28 Mar 2023