OMIA 002034-9615 : Cerebellar cortical degeneration, SNX14-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616354 (trait) , 616105 (gene)

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_051816.1 (46368369..46295243) SNX14 Homologene, Ensembl, NCBI gene

Variants

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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
415 Vizsla Cerebellar cortical degeneration, Hungarian Vizsla SNX14 splicing Naturally occurring variant CanFam3.1 12 g.45530566C>T c.26531G>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