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

Disease-related: 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: