OMIA 000626-9913 : Mannosidosis, beta in Bos taurus

In other species: dog , goat , springbok

Possibly relevant human trait(s) and/or gene(s) (MIM number): 248510

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Species-specific description: Abbitt et al. (1995) reported that bovine beta-mannosidosis, a lysosomal storage disease, is caused by a deficiency of beta-mannosidase. Affected neonatal calves are unable to rise with intention tremors, hidebound skin, slightly domed calvaria, slight prognathism, and narrow palpebral fissures. Their postmortem findings included variable dilatation of the lateral cerebral ventricles, marked pallor and paucity of white matter of the cerebrum and cerebellum, and mild to marked bilateral renomegaly. Lovell et al (1991) reported that in bovine beta-mannosidosis, the thyroid in the affected newborn shows marked cytoplasmic vacuolation, with an associated reduction in the serum concentrations of thyroxine and tri-iodothyronine (Mohammad Shariflou 3/11/2006).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Leipprandt et al. (1999) reported a G to A transition at position 2574 of the cDNA coding sequence of the MANBA gene, resulting in a premature stop codon near the 3' end of the coding region. They described a PCR test for detecting this mutation (Mohammad Shariflou 3/11/2006; FN 15/9/2012).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MANBA mannosidase beta Bos taurus 6 NC_037333.1 (22062310..22189962) MANBA 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
Salers Mannosidosis, beta MANBA nonsense (stop-gain) UMD 3.1 6 g.23540228G>A c.2574G>A p.W858* 1999 10594236 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.
2011 Huynh, T., Khan, J.M., Ranganathan, S. :
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. BMC Genomics 12 Suppl 3:S22, 2011. Pubmed reference: 22369051. DOI: 10.1186/1471-2164-12-S3-S22.
2002 Jolly, R.D. :
Mannosidosis in cattle and its control New Zealand Veterinary Journal 50:90, 2002. Pubmed reference: 16032247.
1999 Leipprandt, J.R., Chen, H., Horvath, J.E., Qiao, X.T., Jones, M.Z., Friderici, K.H. :
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes Mammalian Genome 10:1137-1141, 1999. Pubmed reference: 10594236.
1998 Baker, W.D., Sears, G.L. :
Beta-mannosidosis in a Nebraska cow herd Compendium on Continuing Education for the Practicing Veterinarian 20:S 138 ff., 1998.
1996 Schmutz, S.M., Moker, J.S., Leipprandt, J.R., Friderici, K.H. :
Beta-mannosidase maps to cattle chromosome 6 Mammalian Genome 7:474, 1996. Pubmed reference: 8662218.
1995 Anon. :
SAC veterinary services - beta-mannosidosis diagnosed in imported calves Veterinary Record 137:133-135, 1995.
Chen, H., Leipprandt, J.R., Traviss, C.E., Sopher, B.L., Jones, M.Z., Cavanagh, K.T., Friderici, K.H. :
Molecular cloning and characterization of bovine beta-mannosidase Journal of Biological Chemistry 270:3841-3848, 1995. Pubmed reference: 7876128.
Healy, P.J., Dennis, J.A., Moule, J.F. :
Use of hair root as a source of DNA for the detection of heterozygotes for recessive defects in cattle Australian Veterinary Journal 72:392, 1995. Pubmed reference: 8599573.
1993 Bryan, L., Schmutz, S., Hodges, S.D., Snyder, F.F. :
Bovine beta-Mannosidosis - Pathologic and Genetic Findings in Salers Calves Veterinary Pathology 30:130-139, 1993. Pubmed reference: 8470335.
Jones, M.Z., Abbitt, B. :
Animal Model of Human Disease - Bovine beta-Mannosidosis American Journal of Pathology 142:957-960, 1993. Pubmed reference: 8456950.
O'Toole, D., Welch, V., Redland, K., Williams, E.S. :
Ubiquitinated Inclusions in Brains from Salers Calves with beta-Mannosidosis Veterinary Pathology 30:381-385, 1993. Pubmed reference: 8212463.
Sopher, B.L., Traviss, C.E., Cavanagh, K.T., Jones, M.Z., Friderici, K.H. :
Bovine Kidney beta-Mannosidase - Purification and Characterization Biochemical Journal 289:343-347, 1993. Pubmed reference: 8424779.
Taylor, J.F., Abbitt, B., Walter, J.P., Davis, S.K., Jaques, J.T., Ochoa, R.F. :
Estimation of Genotype Distributions and Posterior Genotype Probabilities for beta-Mannosidosis in Salers Cattle Genetics 135:855-868, 1993. Pubmed reference: 8293984.
1992 Cavanagh, K.T., Jones, M.Z., Abbitt, B., Skinner, R. :
Bovine Plasma beta-Mannosidase Activity and Its Potential Use for beta-Mannosidosis Carrier Detection Journal of Veterinary Diagnostic Investigation 4:434-440, 1992. Pubmed reference: 1457547.
Healy, P.J., Kidd, G.N., Reuter, R.E., Bunce, C., Hosie, I., Stapleton, T. :
beta-Mannosidosis in Salers Calves in Australia Australian Veterinary Journal 69:145, 1992. Pubmed reference: 1642601.
Render, J.A., Lovell, K.L., Keller, C.B., Storts, R.W., Abbitt, B., Jones, M.Z., Castenson, P.E., Hunter, J.F. :
The Ocular and Otic Pathology of Bovine Beta-Mannosidosis Journal of Veterinary Diagnostic Investigation 4:96-98, 1992. Pubmed reference: 1554780.
1991 Abbitt, B., Jones, M.Z., Kasari, T.R., Storts, R.W., Templeton, J.W., Holland, P.S., Castenson, P.E. :
beta-Mannosidosis in 12 Salers Calves Journal of the American Veterinary Medical Association 198:109-113, 1991. Pubmed reference: 1995562.
Lovell, K.L., Jones, M.Z., Patterson, J., Abbitt, B., Castenson, P. :
Thyroid Structure and Function in Bovine beta-Mannosidosis Journal of Inherited Metabolic Disease 14:228-230, 1991. Pubmed reference: 1886407.
Patterson, J.S., Jones, M.Z., Lovell, K.L., Abbitt, B. :
Neuropathology of Bovine beta-Mannosidosis Journal of Neuropathology and Experimental Neurology 50:538-546, 1991. Pubmed reference: 1895144.
1990 Bryan, L. :
Congenital Storage Disease of Salers Calves Canadian Veterinary Journal-Revue Veterinaire Canadienne 31:303, 1990.
Bryan, L., Schmutz, S., Hodges, S.D., Snyder, F.F. :
Bovine Beta-Mannosidase Deficiency Biochemical and Biophysical Research Communications 173:491-495, 1990. Pubmed reference: 2260963.
Jolly, R.D., Thompson, K.G., Bayliss, S.L., Vidler, B.M., Orr, M.B., Healy, P.J. :
Beta-Mannosidosis in a Salers Calf - A New Storage Disease of Cattle New Zealand Veterinary Journal 38:102-105, 1990.

Edit History


  • Created by Mohammad Shariflou on 06 Nov 2006
  • Changed by Frank Nicholas on 14 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012