OMIA 001208-9615 : Alexander disease in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203450

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Molecular basis: Van Poucke et al. (2016): "c.719G>A nucleotide substitution resulting in a p.Arg240His substitution was considered to be causal, because it is orthologous to the heterozygous de novo dominant c.716G>A (p.Arg239His) hotspot variant in man, proven to cause a severe phenotype. In addition, the variant was not found in 50 unrelated healthy Labrador retrievers."

Clinical features: van Poucke et al. (2016): "diagnosed a Labrador retriever with a juvenile form of AxD based on clinical (tetraparesis with spastic front limbs mimicking 'swimming puppy syndrome') and pathological (the detection of GFAP containing Rosenthal fibers in astrocytes) features".

Breed: Labrador Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GFAP glial fibrillary acidic protein Canis lupus familiaris 9 NC_006591.3 (18569868..18579463) GFAP Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Labrador Retriever Alexander disease GFAP missense CanFam3.1 9 g.18572769G>A c.719G>A p.R240H 2016 26486469 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.
2016 Van Poucke, M., Martlé, V., Van Brantegem, L., Ducatelle, R., Van Ham, L., Bhatti, S., Peelman, L.J. :
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Eur J Hum Genet 24:852-6, 2016. Pubmed reference: 26486469. DOI: 10.1038/ejhg.2015.223.
2010 Ito, T., Uchida, K., Nakamura, M., Nakashima, K., Suzuki, K., Nakayama, H. :
Fibrinoid leukodystrophy (Alexander's disease-like disorder) in a young adult French bulldog. J Vet Med Sci 72:1387-90, 2010. Pubmed reference: 20526046.
2006 Alemañ, N., Marcaccini, A., Espino, L., Bermúdez, R., Nieto, J.M., López-Peña, M. :
Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. Vet Pathol 43:1025-8, 2006. Pubmed reference: 17099166. DOI: 10.1354/vp.43-6-1025.
1996 Weissenbock, H., Obermaier, G., Dahme, E. :
Alexanders disease in a Bernese mountain dog Acta Neuropathologica 91:200-204, 1996. Pubmed reference: 8787155.
1986 Cox, NR., Kwapien, RP., Sorjonen, DC., Braund, KG. :
Myeloencephalopathy resembling Alexander's disease in a Scottish terrier dog. Acta Neuropathol 71:163-6, 1986. Pubmed reference: 3776469.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 19 May 2017