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
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. 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_027899.1 (150106069..150047101) | GALC | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Krabbe disease | GALC | deletion, small (<=20) | c.387delAC | 1997 | 9192853 |
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.
| 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