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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615031

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.

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_006590.3 (70332934..70435558) TECPR2 Homologene, Ensembl, NCBI gene

Variants

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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
Spanish water dog Neuroaxonal dystrophy, juvenile TECPR2 missense 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

Reference


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