OMIA 000665-9925 : Mucopolysaccharidosis IIID in Capra hircus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 252940

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.

Associated gene:

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

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.

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
Mucopolysaccharidosis IIID GNS nonsense (stop-gain) c.322C>T p.R102* 1995 7623459

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.
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.

Edit History


  • Created by Frank Nicholas on 12 Sep 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 31 Aug 2012