OMIA 000419-9913 : Glycogen storage disease II in Bos taurus

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

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

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.

Mapping: 19q15

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Dennis et al. (2000) identified two causal mutations in Brahman cattle, namely a frameshifting 2-bp deletion (c.1057delTA; the "E7" mutation) and a nonsense mutation (c.1783C>T; p.Arg595Ter; the "E13" mutation) in the bovine GAA gene; and a 2-bp frameshifting deletion (c.2454delCA; the "E18" mutation) in Shorthorns.

Prevalence: Lyons et al. (2017) reported the presence of the E7 variant in Droughtmaster cattle (a composite breed with some Brahman contribution) at a frequency of 3.4% in their sample of 859 cattle genotyped. These authors stressed that their sample may not be representative of the breed as a whole. Neither the E13 nor E18 variants was detected.

Genetic testing: Dennis et al. (2000) developed allele-specific amplification and double mismatch amplification procedures for genotyping the exon 18 alleles in the acidic alpha-glucosidase gene (Mohammad Shariflou 13/11/2006).

Breeds: Brahman, Droughtmaster, Shorthorn.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GAA glucosidase, alpha; acid Bos taurus 19 NC_037346.1 (52499121..52482891) 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 required column headers

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
Brahman Glycogen storage disease II GAA E13 nonsense (stop-gain) UMD 3.1 19 g.53105979C>T c1783C>T p.R595* 2000 10723725 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Shorthorn Glycogen storage disease II GAA E18 deletion, small (<=20) UMD3.1 19 g.53102004 c.2454_2455delCA p.T819R 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
Brahman Droughtmaster Glycogen storage disease II GAA E7 deletion, small (<=20) UMD3.1 19 g.53109436_53109437delAT c.1057_1058delAT p.Y353L 2000 10723725 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2018 Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :
Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod :, 2018. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.
2017 Denholm, L. :
Genotype disclosure in the genomics era: roles and responsibilities. Aust Vet J :, 2017. Pubmed reference: 28677120. DOI: 10.1111/avj.12606.
Lyons, R.E., Johnston, D.J., McGowan, M.R., Laing, A., Robinson, B., Owen, H., Hill, B.D., Burns, B.M. :
E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle. Aust Vet J 95:138-142, 2017. Pubmed reference: 28444756. DOI: 10.1111/avj.12575.
2007 Cítek, J., Rehout, V., Vecerek, L., Hájková, J. :
Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. J Vet Med A Physiol Pathol Clin Med 54:257-9, 2007. Pubmed reference: 17523960. DOI: 10.1111/j.1439-0442.2007.00931.x.
2006 Zlotowski, P., Gimeno, EJ., Diaz, A., Barros, R., Barros, SS., Cruz, CE., Driemeier, D. :
Lectin-histochemistry: glycogenosis in cattle. Vet Res Commun 30:369-77, 2006. Pubmed reference: 16502105. DOI: 10.1007/s11259-006-3237-0.
2002 Dennis, J.A., Healy, P.J., Reichmann, K.G. :
Genotyping Brahman cattle for generalised glycogenosis Australian Veterinary Journal 80:286-291, 2002. Pubmed reference: 12074310.
2001 Dennis, J.A., Healy, P.J. :
Genotyping Shorthorn cattle for generalised glycogenosis Australian Veterinary Journal 79:773-775, 2001. Pubmed reference: 11789914.
2000 Dennis, J.A., Moran, C., Healy, P.J. :
The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis Mammalian Genome 11:206-212, 2000. Pubmed reference: 10723725.
1996 Healy, P.J. :
Testing for undesirable traits in cattle - an Australian perspective Journal of Animal Science 74:917-922, 1996. Pubmed reference: 8728015.
1995 Healy, P.J., Nicholls, P.J., Martiniuk, F., Tzall, S., Hirschhorn, R., Howell, J.M. :
Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle Australian Veterinary Journal 72:309-311, 1995. Pubmed reference: 8579563.
1994 Healy, P.J., Dennis, J.A., Nicholls, P.J., Reichmann, K.G. :
Haemopoietic Chimaerism - A Complication in Heterozygote Detection Tests for Inherited Defects in Cattle Animal Genetics 25:1-6, 1994. Pubmed reference: 8161014.
Palmer, D.G., Dorling, P.R., Howell, J.M. :
Bovine Glycogenosis Type II - The Molecular Defect in Shorthorn Cattle Neuromuscular Disorders 4:39-48, 1994. Pubmed reference: 8173350.
1993 Reichmann, K.G., Twist, J.O., Thistlethwaite, E.J. :
Clinical, Diagnostic and Biochemical Features of Generalised Glycogenosis Type-II in Brahman Cattle Australian Veterinary Journal 70:405-408, 1993. Pubmed reference: 8280022.
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.
Wisselaar, H.A., Hermans, M.M.P., Visser, W.J., Kroos, M.A., Oostra, B.A., Aspden, W., Harrison, B., Hetzel, D.J.S., Reuser, A.J.J., Drinkwater, R.D. :
Biochemical Genetics of Glycogenosis Type-II in Brahman Cattle Biochemical and Biophysical Research Communications 190:941-947, 1993. Pubmed reference: 8439343. DOI: 10.1006/bbrc.1993.1140.
1990 Howell, J.M., Dorling, P.R., Dimarco, P.N., Palmer, D., Taylor, E.G., Shelton, J.N. :
Some Experiences of Enzyme Replacement Therapy in Generalised Glycogenosis Type-II of Bovines Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy :119-128, 1990.
Mcphee, C.P., Reichmann, K.G. :
A Genetic Analysis of Lysosomal Enzyme Activities in Brahman Cattle Australian Journal of Agricultural Research 41:205-211, 1990.
1989 Reichmann, K.G., Twist, J.O., McKenzie, R.A. :
Inhibition of alpha-glucosidase in cattle by Castanospermum australe: an attempted phenocopy of Pompe's disease Australian Veterinary Journal 66:86-89, 1989. Pubmed reference: 2653294.
1987 Healy, P.J., Sewell, C.A., Nieper, R.E., Whittle, R.J., Reichmann, K.G. :
Control of generalised glycogenosis in a Brahman herd Australian Veterinary Journal 64:278-280, 1987. Pubmed reference: 3480704.
Reichmann, K.G., Twist, J.O., McKenzie, R.A., Rowan, K.J. :
Inhibition of bovine alpha-glucosidase by Castanospermum australe and its effect on the biochemical identification of heterozygotes for generalised glycogenesis type II (Pompe's disease) in cattle Australian Veterinary Journal 64:274-276, 1987. Pubmed reference: 3122715.
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.
1981 Howell, JM., Dorling, PR., Cook, RD., Robinson, WF., Bradley, S., Gawthorne, JM. :
Infantile and late onset form of generalised glycogenosis type II in cattle. J Pathol 134:267-77, 1981. Pubmed reference: 7033492. DOI: 10.1002/path.1711340403.
O'Sullivan, B.M., Healy, P.J., Fraser, I.R., Nieper, R.E., Whittle, R.K., Sewell, C.A. :
Generalised glycogenosis in Brahman cattle Australian Veterinary Journal 57:227-229, 1981. Pubmed reference: 6945845.
1977 Richards, R.B., Edwards, J.R., Cook, R.D., White, R.R. :
Bovine generalized glycogenosis Neuropathology and Applied Neurobiology 3:45-56, 1977.

Edit History


  • Created by Mohammad Shariflou on 14 Nov 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 01 Oct 2015
  • Changed by Frank Nicholas on 02 Mar 2017
  • Changed by Frank Nicholas on 12 May 2017