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OMIA 000578-9544 : Krabbe disease in Macaca mulatta

In other species: dog , domestic cat , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 245200 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1997

Cross-species summary: Also known as globoid cell leukodystrophy (GLD), galactosylceramide lipidosis, galactocerebrosidase deficiency, GALC deficiency, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency. A lysosomal storage disease in which there is a buildup (storage) of myelin, due to the lack of the enzyme galactosylceramidase (galactocerebrosidase), whose task is to break down myelin into its constituent molecules. Characterised by weakness progressing to paralysis.

Molecular basis: The gene for galactocerebrosidase (GALC) in rhesus monkeys was cloned and characterised by Luzi et al. (1997), who also showed that Krabbe disease in this species is due to a dinucleotide deletion in cDNA positions 387 and 388, resulting in a frame shift and a consequent stop codon after 46 nucleotides.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GALC galactosylceramidase Macaca mulatta 7 NC_041760.1 (150104678..150047244) GALC 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.

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
517 Krabbe disease GALC deletion, small (<=20) Naturally occurring variant c.387delAC 1997 9192853
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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.
2022 Hordeaux, J., Jeffrey, B.A., Jian, J., Choudhury, G.R., Michalson, K., Mitchell, T.W., Buza, E.L., Chichester, J., Dyer, C., Bagel, J., Vite, C.H., Bradbury, A.M., Wilson, J.M. :
Efficacy and safety of a Krabbe disease gene therapy. Hum Gene Ther :, 2022. Pubmed reference: 35333110. DOI: 10.1089/hum.2021.245.
2016 Bongarzone, E.R., Escolar, M.L., Gray, S.J., Kafri, T., Vite, C.H., Sands, M.S. :
Insights into the pathogenesis and treatment of Krabbe disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217.
2015 Graziano, A.C., Cardile, V. :
History, genetic, and recent advances on Krabbe disease. Gene 555:2-13, 2015. Pubmed reference: 25260228. DOI: 10.1016/j.gene.2014.09.046.
1998 Baskin, G.B., Ratterree, M., Davison, B.B., Falkenstein, K.P., Clarke, M.R., England, J.D., Vanier, M.T., Luzi, P., Rafi, M.A., Wenger, D.A. :
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, krabbe-disease) in rhesus monkeys (macaca mulatta) Laboratory Animal Science 48:476-482, 1998. Pubmed reference: 10090061.
1997 Luzi, P., Rafi, M.A., Victoria, T., Baskin, G.B., Wenger, D.A. :
Characterization of the rhesus monkey galactocerebrosidase (galc) cdna and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate Genomics 42:319-324, 1997. Pubmed reference: 9192853. DOI: 10.1006/geno.1997.4744.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 12 Mar 2018