OMIA 002034-9615 : Cerebellar cortical degeneration, Hungarian Vizsla in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 616354

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific description: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. Other phenotypically related ataxias in dogs may also be caused by variants in the ATP1B2, CAPN1, GRM1, ITPR1, KCNJ10, RAB24, SEL1L, and SPTBN2 genes.

History: Fenn et al. (2016) were the first to report the occurrence of this disorder in the Hungarian Vizsla breed.

Molecular basis: Fenn et al. (2016): "an exon 26 splice donor variant (CanFam3.1, chr12:45,530,566, c.2653 + 1G > A) in the Sorting Nexin 14 (SNX14) gene"

Prevalence: Fenn et al. (2016: "Genetic screening of 133 unaffected Hungarian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in the wider population"

Breed: Vizsla.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SNX14 sorting nexin 14 Canis lupus familiaris 12 NC_006594.3 (45598868..45526042) SNX14 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
Vizsla Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing CanFam3.1 12 g.45530566G>A c.2653 + 1G > A 2016 27566131

Reference


2016 Fenn, J., Boursnell, M., Hitti, R.J., Jenkins, C.A., Terry, R.L., Priestnall, S.L., Kenny, P.J., Mellersh, C.S., Forman, O.P. :
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17:123, 2016. Pubmed reference: 27566131. DOI: 10.1186/s12863-016-0433-y.

Edit History


  • Created by Frank Nicholas on 30 Aug 2016
  • Changed by Frank Nicholas on 30 Aug 2016
  • Changed by Tosso Leeb on 07 Jul 2017