OMIA 002016-9615 : Van den Ende-Gupta syndrome in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
600920
Mendelian trait/disorder:
unknown
Considered a defect:
yes
Year key variant first reported:
2016
History:
This disorder was first described by Hytönen et al. (2016).
Molecular basis:
Hytönen et al. (2016) identified a likely causal mutation in Wire Fox Terriers as a "c.865_866delTC variant [that] results in a frameshift and a premature stop codon, (p.S289Gfs*15), leading to a truncated protein in the first half of the coding region".
Clinical features:
Hytönen et al. (2016): "Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed"
Breed:
Wirehaired Fox Terrier.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SCARF2 | scavenger receptor class F, member 2 | Canis lupus familiaris | 26 | NC_006608.3 (30243693..30231967) | SCARF2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Wirehaired Fox Terrier | Van den Ende-Gupta syndrome | SCARF2 | deletion, small (<=20) | c.865_866delTC | p.S289Gfs*15 | 2016 | 27187611 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 | Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. : | |
| Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037. | ||
| Hytönen, M.K., Lohi, H. : | ||
| Canine models of human rare disorders. Rare Dis 4:e1241362, 2016. Pubmed reference: 27803843. DOI: 10.1080/21675511.2016.1241362. |
Edit History
- Created by Frank Nicholas on 27 May 2016