OMIA 000626-9925 : Mannosidosis, beta in Capra hircus

In other species: cattle , 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: 1996

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human and bovine disorder), Leipprandt et al. (1996) detected a single base deletion in the caprine MANBA (mannosidase, beta A, lysosomal) gene, resulting in a frameshift and hence premature termination, yielding a deduced peptide of 481 amino acids, compared to the normal peptide of 879 amino acids. The authors designed a PCR genotyping test which they used with success to distinguish the three genotypes at this locus.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MANBA mannosidase, beta A, lysosomal Capra hircus 6 NC_030813.1 (22343643..22463244) MANBA 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
Mannosidosis, beta MANBA deletion, small (<=20) c.1398delG 1996 8921369

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.
2000 Driemeier, D., Colodel, E.M., Gimeno, E.J., Barros, S.S. :
Lysosomal storage disease caused by Sida carpinifolia poisoning in goats Veterinary Pathology 37:153-159, 2000. Pubmed reference: 10714644.
1997 Lovell, K.L., Matsuura, F., Patterson, J., Baeverfjord, G., Ames, N.K., Jones, M.Z. :
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis Prenatal Diagnosis 17:551-557, 1997. Pubmed reference: 9203214.
1996 Leipprandt, J.R., Kraemer, S.A., Haithcock, B.E., Chen, H., Dyme, J.L., Cavanagh, K.T., Friderici, K.H., Jones, M.Z. :
Caprine beta-mannosidase - sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis Genomics 37:51-56, 1996. Pubmed reference: 8921369. DOI: 10.1006/geno.1996.0519.
Sasaki, M., Lovell, K.L., Moller, J.R. :
mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis Brain Research. Developmental Brain Research 91:131-135, 1996. Pubmed reference: 8821484.
1995 Lovell, K.L., Sprecher, D.J., Ames, N.K., Jones, M.Z. :
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis Theriogenology 44:517-527, 1995.
1994 Lovell, K.L., Kranich, R.J., Cavanagh, K.T. :
Biochemical and Histochemical Analysis of Lysosomal Enzyme Activities in Caprine beta-Mannosidosis Molecular and Chemical Neuropathology 21:61-74, 1994. Pubmed reference: 8179772.
1993 Jones, M.Z., Kennedy, F.A. :
Caprine beta-Mannosidosis - Aberrant Phenotype in a 5-Month- Old Euthyroid Animal Journal of Inherited Metabolic Disease 16:910-911, 1993. Pubmed reference: 8295417.
Sasaki, M., Lovell, K.L., Moller, J.R. :
Myelin-Associated Glycoprotein (MAG) in Myelin Deficiency of Caprine beta-Mannosidosis Brain Research 620:127-132, 1993. Pubmed reference: 7691380.
1992 Benjamins, J.A., Nedelkoska, L., Lovell, K.L. :
Caprine beta-Mannosidosis - Regional Differences in Deficits of CNS Myelin Proteins Developmental Neuroscience 14:195-202, 1992. Pubmed reference: 1283736.
Gage, D.A., Rathke, E., Costello, C.E., Jones, M.Z. :
Determination of Sequence and Linkage of Tissue Oligosaccharides in Caprine beta-Mannosidosis by Fast Atom Bombardment, Collisionally Activated Dissociation Tandem Mass Spectrometry Glycoconjugate Journal 9:126-131, 1992. Pubmed reference: 1422131.
Sopher, B.L., Traviss, C.E., Cavanagh, K.T., Jones, M.Z., Friderici, K.H. :
Purification and Characterization of Goat Lysosomal beta- Mannosidase Using Monoclonal and Polyclonal Antibodies Journal of Biological Chemistry 267:6178-6182, 1992. Pubmed reference: 1556126.
1991 Hu, P., Wenger, D.A., Vandiggelen, O.P., Kleijer, W.J. :
Complementation Studies in Human and Caprine beta-Mannosidosis Journal of Inherited Metabolic Disease 14:13-17, 1991. Pubmed reference: 1861455.
1990 Boyer, P.J., Lovell, K.L. :
Investigation of Dysmyelinogenesis in Caprine Beta- Mannosidosis - Invitro Characterization of Oligodendrocytes Glia 3:222-227, 1990. Pubmed reference: 2141598. DOI: 10.1002/glia.440030309.
Lovell, K.L. :
Caprine Beta-Mannosidosis - Development of Glial and Myelin Abnormalities in Optic Nerve and Corpus Callosum Glia 3:26-32, 1990. Pubmed reference: 2138133. DOI: 10.1002/glia.440030105.
Pearce, R.D., Callahan, J.W., Little, P.B., Klunder, L.R., Clarke, J.T.R. :
Caprine Beta-D-Mannosidosis - Characterization of a Model Lysosomal Storage Disorder Canadian Journal of Veterinary Research-Revue Canadienne de Recherche Veterinaire 54:22-29, 1990. Pubmed reference: 2306674.
Pearce, R.D., Callahan, J.W., Novak, A., Little, P.B., Clarke, J.T.R. :
Properties of Partially Purified Goat Kidney Beta-D- Mannosidase British Veterinary Journal 146:270-280, 1990. Pubmed reference: 2364260.
1989 Render, J.A., Lovell, K.L., Jones, M.Z., Wheeler, C.A. :
Ocular Pathology of Caprine Beta-Mannosidosis Veterinary Pathology 26:444-446, 1989. Pubmed reference: 2588439.
1986 Fisher, R.A., Rathke, E.J.S., Kelley, J.A., Dunstan, R.W., Cavanagh, K., Jones, M.Z. :
Inheritance of beta-mannosidosis in goats Animal Genetics 17:183-190, 1986. Pubmed reference: 3740554.
1985 Sewell, C.A., Healy, P.J. :
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis Australian Veterinary Journal 62:286-288, 1985. Pubmed reference: 4062743.
1983 Benitez, J.T., Lynn, G.E., Jones, M.Z. :
Caprine beta mannosidosis: temporal bone pathology. Adv Otorhinolaryngol 31:135-47, 1983. Pubmed reference: 6624589.
Dunstan, R.W., Cavanagh, K., Jones, M.Z. :
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. Am J Vet Res 44:685-9, 1983. Pubmed reference: 6869966.
Jones, M.Z., Cunningham, J.G., Dade, A.W., Alessi, D.M., Mostosky, U.V., Vorro, J.R., Benitez, J.T., Lovell, K.L. :
Caprine beta-mannosidosis: clinical and pathological features Journal of Neuropathology and Neurobiology 42:268-285, 1983. Pubmed reference: 6842266.
Lovell, K.L., Jones, M.Z. :
Distribution of central nervous system lesions in beta-mannosidosis Acta Neuropathologica 62:121-126, 1983. Pubmed reference: 6659869.
Malachowski, J.A., Jones, M.Z. :
Beta-mannosidosis: lesions of the distal peripheral nervous system Acta Neuropathologica 61:95-100, 1983. Pubmed reference: 6637401.
1982 Cavanagh, K., Dunstan, R.W., Jones, M.Z. :
Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis. Am J Vet Res 43:1058-9, 1982. Pubmed reference: 7103175.
Healy, P.J., McCleary, B.V. :
Alternative substrates for use in the detection of goats heterozygous for beta-mannosidosis. Res Vet Sci 33:73-5, 1982. Pubmed reference: 7134652.
Jones, M.Z., Cunningham, J.G., Dade, A.W., Dawson, G., Laine, R.A., Williams, C.S.F., Alessi, D.M., Mostosky, U.V., Vorro, J.R. :
Caprine beta-mannosidosis :165-176, 1982.
1981 Jones, M.Z., Laine, R.A. :
Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain. J Biol Chem 256:5181-84, 1981. Pubmed reference: 7228875.
Jones, MZ., Dawson, G. :
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. J Biol Chem 256:5185-8, 1981. Pubmed reference: 7228876.

Edit History


  • Created by Frank Nicholas on 16 Nov 2005
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012
  • Changed by Frank Nicholas on 03 Sep 2012