OMIA 000626-9615 : Mannosidosis, beta in Canis lupus familiaris
Bolfa et al. (2019) reported a likely causal variant in an affected mixed-breed dog from St Kitts: an "exonic five bp tandem duplication in the penultimate exon of the MANBA gene (c.2377_2381dupTATCA) which results in a reading frame shift, altering the subsequent amino acid sequence and creating a premature stop codon".Clinical features: Jolly et al. (2019): "A neurological disease was investigated in 3 German Shepherd pups from the same litter that failed to grow normally, appeared stiff, were reluctant to move, and were deaf. They developed intermittent seizures and ataxia and had proprioceptive defects." Pathology: Jolly et al. (2019): "Histopathology showed severe vacuolation of neurons, astrocytes in nervous tissue, renal tubular epithelial cells, and macrophages in nervous tissue, spleen, and liver. Vacuoles appeared empty with no storage material stained by periodic acid–Schiff (PAS) or Sudan black stains, leading to a diagnosis of a lysosomal storage disease and in particular an oligosaccharidosis." Breeds: German Shepherd Dog, Mixed breed. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MANBA||mannosidase, beta A, lysosomal||Canis lupus familiaris||32||NC_051836.1 (24386916..24271881)||MANBA||Homologene, Ensembl, NCBI gene|
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1093||Mixed breed||Beta mannosidosis||MANBA||duplication||Naturally occurring variant||CanFam3.1||32||g.24057654_24057658dup||c.2377_2381dup||p.(H794Hfs)||XM_005639236.3; XP_005639293.1; published as c.2377_2381dupTATCA||2019||31439511||Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn|
|1072||German Shepherd Dog||Beta mannosidosis||MANBA||missense||Naturally occurring variant||CanFam3.1||32||g.24147500A>T||c.560T>A||p.(I187N)||2019||30983534|
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.
|2019||Bolfa, P., Wang, P., Nair, R., Rajeev, S., Armien, A.G., Henthorn, P.S., Wood, T., Thrall, M.A., Giger, U., Bolfa, P., Wang, P., Nair, R., Rajeev, S., Armien, A.G., Henthorn, P.S., Wood, T., Thrall, M.A., Giger, U. :|
|Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization. Mol Genet Metab 128:137-143, 2019. Pubmed reference: 31439511. DOI: 10.1016/j.ymgme.2019.08.002.|
|Jolly, R.D., Dittmer, K.E., Garrick, D.J., Chernyavtseva, A., Hemsley, K.M., King, B., Fietz, M., Shackleton, N.M., Fairley, R., Wylie, K., Jolly, R.D., Dittmer, K.E., Garrick, D.J., Chernyavtseva, A., Hemsley, K.M., King, B., Fietz, M., Shackleton, N.M., Fairley, R., Wylie, K. :|
|β-Mannosidosis in German Shepherd Dogs. Vet Pathol 56:743-748, 2019. Pubmed reference: 30983534. DOI: 10.1177/0300985819839239.|
- Created by Frank Nicholas on 24 Apr 2019
- Changed by Frank Nicholas on 24 Apr 2019
- Changed by Frank Nicholas on 05 Sep 2019