OMIA 002105-9615 : Neuroaxonal dystrophy, PLA2G6-related in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
256600
,
610217
,
612953
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2017
Molecular basis:
Tsuboi et al. (2017): PLA2G6 c.1579G>A; p.T526A
Pathology:
Tsuboi et al. (2017): this disorder is "histopathologically characterized by severe axonal swelling, known as “spheroids,” throughout the nervous system."
Breed:
Papillon.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PLA2G6 | phospholipase A2, group VI (cytosolic, calcium-independent) | Canis lupus familiaris | 10 | NC_006592.3 (26499033..26559533) | PLA2G6 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Papillon | Neuroaxonal dystrophy, PLA2G6-related | PLA2G6 | missense | CanFam3.1 | 10 | g.26544820G>A | c.1579G>A | p.T527A | 2017 | 28107443 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2017 | Tsuboi, M., Watanabe, M., Nibe, K., Yoshimi, N., Kato, A., Sakaguchi, M., Yamato, O., Tanaka, M., Kuwamura, M., Kushida, K., Ishikura, T., Harada, T., Chambers, J.K., Sugano, S., Uchida, K., Nakayama, H. : | |
| Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One 12:e0169002, 2017. Pubmed reference: 28107443. DOI: 10.1371/journal.pone.0169002. | ||
| 2009 | Nibe, K., Nakayama, H., Uchida, K. : | |
| Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol 46:474-83, 2009. Pubmed reference: 19176506. DOI: 10.1354/vp.08-VP-0156-U-FL. | ||
| 2007 | Diaz, JV., Duque, C., Geisel, R. : | |
| Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med 21:531-4, 2007. Pubmed reference: 17552463. | ||
| Nibe, K., Kita, C., Morozumi, M., Awamura, Y., Tamura, S., Okuno, S., Kobayashi, T., Uchida, K. : | ||
| Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci 69:1047-52, 2007. Pubmed reference: 17984592. | ||
| Tamura, S., Tamura, Y., Uchida, K. : | ||
| Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract 48:458-61, 2007. Pubmed reference: 17543020. DOI: 10.1111/j.1748-5827.2006.00304.x. | ||
| 1995 | Franklin, R.J.M., Jeffery, N.D., Ramsey, I.K. : | |
| Neuroaxonal dystrophy in a litter of papillon pups Journal of Small Animal Practice 36:441-444, 1995. Pubmed reference: 8583759. |
Edit History
- Created by Frank Nicholas on 12 May 2017
- Changed by Frank Nicholas on 12 May 2017