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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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