OMIA:001975-9615 : Neuroaxonal dystrophy, TECPR2-related in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615031 (trait) , 615000 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

History: This particular form of neuroaxonal dystrophy occurring in Spanish water dogs was first reported by Hahn et al. (2015).

Molecular basis: Hanh et al. (2015) reported a likely causal allele as being "a perfectly associated, single, non-synonymous coding variant in the canine tectonin beta-propeller repeat-containing protein 2 (TECPR2) gene affecting a highly conserved region was detected (c.4009C>T or p.R1337W)".

Clinical features: As reported by Hahn et al. (2015): "Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem and in the sensory pathways of the spinal cord. Iron accumulation was absent. Ultrastructurally spheroids contained predominantly closely packed vesicles with a double-layered membrane, which were characterized as autophagosomes using immunohistochemistry."

Breed: Spanish Water Dog (Dog) (VBO_0201280).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TECPR2 tectonin beta-propeller repeat containing 2 Canis lupus familiaris 8 NC_051812.1 (70610039..70711934) TECPR2 Homologene, Ensembl , NCBI gene


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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 Year Published PubMed ID(s) Acknowledgements
95 Spanish Water Dog (Dog) Neuroaxonal dystrophy, juvenile TECPR2 missense Naturally occurring variant CanFam3.1 8 g.70433320C>T c.4009C>T p.(R1337W) 2015 26555167 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:001975-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2015 Hahn, K., Rohdin, C., Jagannathan, V., Wohlsein, P., Baumgärtner, W., Seehusen, F., Spitzbarth, I., Grandon, R., Drögemüller, C., Jäderlund, K.H. :
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167. DOI: 10.1371/journal.pone.0141824.

Edit History

  • Created by Frank Nicholas on 30 Dec 2015
  • Changed by Frank Nicholas on 30 Dec 2015