OMIA:000665-9925 : Mucopolysaccharidosis IIID in Capra hircus
Categories: Lysosomal storage disease
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1995
Cross-species summary: The only domestic species in which this lysosomal storage disease has been reported is goats (Thompson et al., 1992). Its molecular basis in this species was elucidated by Cavanagh et al. (1995).
Species-specific description: This lysosomal storage disease was first reported in goats by Thompson et al. (1992). It has not yet been reported in any other domestic species. Its molecular basis was described by Cavanagh et al. (1995).
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Cavanagh et al. (1995) showed that this disorder in goats is due a nonsense mutation ("changing a C to T in codon 102 of the 559-amino-acid G6S coding sequence") in the 5' region of the caprine gene for N-acetylglucosamine-6-sulphatase (GNS).
Breed: Nubian, United States of America (Goat) (VBO_0008739).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GNS||glucosamine (N-acetyl)-6-sulfatase||Capra hircus||5||NC_030812.1 (48392751..48439235)||GNS||Homologene, Ensembl , NCBI gene|
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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|
|265||Mucopolysaccharidosis IIID||GNS||nonsense (stop-gain)||Naturally occurring variant||ARS1||5||g.48406875C>T||c.304C>T||p.(R102*)||1995||7623459||The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries. Published as c.322C>T. Updated position based on ENSEMBL Variant Effect Predictor: transcript ENSCHIT00000018630.1|
Cite this entry
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.
|2010||Clavijo, A., Sun, F., Sneed, L. :|
|Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. J Vet Diagn Invest 22:622-7, 2010. Pubmed reference: 20622237 .|
|2004||Jones, MZ., Alroy, J., Downs-Kelly, E., Lucas, RE., Kraemer, SA., Cavanagh, KT., King, B., Hopwood, JJ. :|
|Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations. J Mol Neurosci 24:277-91, 2004. Pubmed reference: 15456941 . DOI: 10.1385/JMN:24:2:277.|
|2000||Downs-Kelly, E., Jones, M.Z., Alroy, J., Cavanagh, K.T., King, B., Lucas, R.E., Baker, J.C., Kraemer, S.A., Hopwood, J.J. :|
|Caprine mucopolysaccharidosis IIID - A preliminary trial of enzyme replacement therapy Journal of Molecular Neuroscience 15:251-262, 2000. Pubmed reference: 11303788 . DOI: 10.1385/JMN:15:3:251.|
|1998||Hoard, H.M., Leipprandt, J.R., Cavanagh, K.T., Truscott, N.K., Levene, B.A.L., Friderici, K.H., Jones, M.Z. :|
|Determination of genotypic frequency of caprine mucopolysaccharidosis IIID Journal of Veterinary Diagnostic Investigation 10:181-183, 1998. Pubmed reference: 9576348 .|
|Jones, M.Z., Alroy, J., Boyer, P.J., Cavanagh, K.T., Johnson, K., Gage, D., Vorro, J., Render, J.A., Common, R.S., Leedle, R.A., Lowrie, C., Sharp, P., Liour, S.S., Levene, B., Hoard, H., Lucas, R., Hopwood, J.J. :|
|Caprine mucopolysaccharidosis-IIID - clinical, biochemical, morphological and immunohistochemical characteristics Journal of Neuropathology & Experimental Neurology 57:148-157, 1998.|
|1995||Cavanagh, K.T., Leipprandt, J.R., Jones, M.Z., Friderici, K. :|
|Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence Journal of Inherited Metabolic Disease 18:96, 1995. Pubmed reference: 7623459 .|
|Leipprandt, J.R., Friderici, K., Sprecher, D.J., Jones, M.Z. :|
|Prenatal testing for caprine N-acetylglucosamine-6-sulphatase deficiency and sex identification. J Inherit Metab Dis 18:647-8, 1995. Pubmed reference: 8598652 .|
|1992||Thompson, J.N., Jones, M.Z., Dawson, G., Huffman, P.S. :|
|N-Acetylglucosamine 6-Sulphatase Deficiency in a Nubian Goat - A Model of San-Filippo Syndrome Type-D (Mucopoly- Saccharidosis-IIID) Journal of Inherited Metabolic Disease 15:760-768, 1992. Pubmed reference: 1434515 .|
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