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