OMIA 000419-9615 : Glycogen storage disease II in Canis lupus familiaris

In other species: domestic cat , cattle , sheep , Japanese quail

Possibly relevant human trait(s) and/or gene(s) (MIM number): 232300

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II. A lysosomal storage disease in which there is a buildup (storage) of glycogen, due to the lack of the enzyme alpha-glucosidase, whose task is to break down glycogen into its constituent glucose molecules. Characterised by poor growth, incoordination, muscle weakness and eventual recumbency.

History: This canine disorder was first reported by Mostafa (1970), in a Swedish Lapland dog.

Molecular basis: Adopting the comparative candidate-gene approach (based on similarity of diagnostic signs with humans), Seppälä et al. (2013) sequenced the canine GAA gene (encoding acid α-glucosidase) in "two affected Finnish Lapphunds, their dam and an unrelated healthy 8-year-old Finnish Lapphund as control", revealing a causal nonsense mutation: a "c.2237G>A mutation leading to a premature stop codon at amino acid position 746", i.e. p.W746*. Using a cell line established decades ago from tongue tissue, the authors "were able to establish that one of the originally described Swedish Lapphunds with Pompe disease (born in 1979) was also homozygous for the same c.2237G>A mutation". Exactly the same mutation in the human GAA gene causes the same disease (see the MIM entry above).

Prevalence: Seppälä et al. (2013) "screened 95 Finnish Lapphunds, 99 Lapponian Herders and 34 Swedish Lapphunds" for the c.2237G>A; p.W746* causal mutation, observing 5%, 2% and zero carriers, respectively. This mutation was not present in 304 dogs from 21 other breeds.

Breeds: Finnish Lapphund, Swedish Lapphund.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GAA glucosidase, alpha; acid Canis lupus familiaris 9 NC_006591.3 (1615582..1601092) GAA Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
Finnish Lapphund Swedish Lapphund Glycogen storage disease II GAA nonsense (stop-gain) CanFam3.1 9 g1603730G>A c.2237G>A p.W746* 2013 23457621 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.
2013 Seppälä, E.H., Reuser, A.J., Lohi, H. :
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 23457621. DOI: 10.1371/journal.pone.0056825.
1993 Reuser, A.J.J. :
Molecular Biology, Therapeutic Trials and Animal Models of Lysosomal Storage Diseases - Type-II Glycogenosis as an Example Annales de Biologie Clinique 51:218-219, 1993.
1985 Walvoort, HC. :
Glycogen storage disease type II in the Lapland dog. Vet Q 7:187-90, 1985. Pubmed reference: 3901497.
Walvoort, HC., Dormans, JA., van den Ingh, TS. :
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985. Pubmed reference: 3921759.
Walvoort, HC., Koster, JF., Reuser, AJ. :
Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci 38:174-8, 1985. Pubmed reference: 3923581.
1984 Walvoort, HC., Slee, RG., Sluis, KJ., Koster, JF., Reuser, AJ. :
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984. Pubmed reference: 6391168. DOI: 10.1002/ajmg.1320190323.
1983 Walvoort, HC. :
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983. Pubmed reference: 6408305.
1982 Walvoort, HC., Slee, RG., Koster, JF. :
Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta 715:63-9, 1982. Pubmed reference: 7041988.
1970 Mostafa, I.E. :
A case of glycogenic cardiomegaly in a dog Acta Veterinaria Scandinavica 11:197-208, 1970. Pubmed reference: 5270856.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 17 May 2013