Van den Ende-Gupta Syndrome (VDEGS)

Gene: SCARF2

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, SCARF2 gene; c.1873_1874 del., p.(S625G fs STOP 15)

Medical system: Skeletal

Breeds: Fox Terrier - Wire, Golden Retriever, Lagotto Romagnolo, Lakeland Terrier, Welsh Terrier

References:

OMIA link: [2016-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Hytönen MK, Arumilli M, Lappalainen AK, et al. (2016) Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet 12:e1006037.  [pubmed/27187611]