OMIA 001309-9615 : Mucopolysaccharidosis IIIA in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 252900

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Cross-species summary: The only domestic species in which this lysosomal storage disease has been reported is dogs (Fischer et al., 1998).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Aronovich et al. (2000) reported a likely causal variant in Dachsunds as "a 3-bp deletion, 737-739delCCA, resulting in the loss of threonine at position 246 in both alleles of the propositus and in one allele of a healthy littermate".

Yogalingam et al. (2002) identified a single bp insertion (708-709insC) as a likely causative variant in New Zealand Huntaway dogs.

Breed: Wire-haired dachshund.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SGSH N-sulfoglucosamine sulfohydrolase Canis lupus familiaris 9 NC_006591.3 (1540933..1547029) SGSH 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.

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
New Zealand Huntaway dog Mucopolysaccharidosis IIIA SGSH insertion, small (<=20) c.708-709insC 2002 11829484
Dachshund Mucopolysaccharidosis IIIA SGSH deletion, small (<=20) c.737-739delCCA 2000 10950929


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 King, B., Hassiotis, S., Rozaklis, T., Beard, H., Trim, P.J., Snel, M.F., Hopwood, J.J., Hemsley, K.M. :
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA. J Neurochem 137:409-22, 2016. Pubmed reference: 26762778. DOI: 10.1111/jnc.13533.
King, B., Marshall, N.R., Hassiotis, S., Trim, P.J., Tucker, J., Hattersley, K., Snel, M.F., Jolly, R.D., Hopwood, J.J., Hemsley, K.M. :
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA. J Inherit Metab Dis :, 2016. Pubmed reference: 27832416. DOI: 10.1007/s10545-016-9994-1.
Sorrentino, N.C., Fraldi, A. :
Brain Targeting in MPS-IIIA. Pediatr Endocrinol Rev 13 Suppl 1:630-8, 2016. Pubmed reference: 27491210.
2015 King, B., Marshall, N., Beard, H., Hassiotis, S., Trim, P.J., Snel, M.F., Rozaklis, T., Jolly, R.D., Hopwood, J.J., Hemsley, K.M. :
Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain. J Inherit Metab Dis 38:341-50, 2015. Pubmed reference: 25421091. DOI: 10.1007/s10545-014-9790-8.
Marshall, N.R., Hassiotis, S., King, B., Rozaklis, T., Trim, P.J., Duplock, S.K., Winner, L.K., Beard, H., Snel, M.F., Jolly, R.D., Hopwood, J.J., Hemsley, K.M. :
Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods. Exp Neurol 263:79-90, 2015. Pubmed reference: 25246230. DOI: 10.1016/j.expneurol.2014.09.008.
2011 Crawley, AC., Marshall, N., Beard, H., Hassiotis, S., Walsh, V., King, B., Hucker, N., Fuller, M., Jolly, RD., Hopwood, JJ., Hemsley, KM. :
Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiol Dis 43:422-34, 2011. Pubmed reference: 21550404. DOI: 10.1016/j.nbd.2011.04.014.
Ellinwood, N.M., Ausseil, J., Desmaris, N., Bigou, S., Liu, S., Jens, J.K., Snella, E.M., Mohammed, E.E., Thomson, C.B., Raoul, S., Joussemet, B., Roux, F., Chérel, Y., Lajat, Y., Piraud, M., Benchaouir, R., Hermening, S., Petry, H., Froissart, R., Tardieu, M., Ciron, C., Moullier, P., Parkes, J., Kline, K.L., Maire, I., Vanier, M.T., Heard, J.M., Colle, M.A. :
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther 19:251-9, 2011. Pubmed reference: 21139569. DOI: 10.1038/mt.2010.265.
2009 Hemsley, KM., Norman, EJ., Crawley, AC., Auclair, D., King, B., Fuller, M., Lang, DL., Dean, CJ., Jolly, RD., Hopwood, JJ. :
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study. Mol Genet Metab 98:383-92, 2009. Pubmed reference: 19699666. DOI: 10.1016/j.ymgme.2009.07.013.
2007 Jolly, RD., Johnstone, AC., Norman, EJ., Hopwood, JJ., Walkley, SU. :
Pathology of mucopolysaccharidosis IIIA in Huntaway dogs. Vet Pathol 44:569-78, 2007. Pubmed reference: 17846229. DOI: 10.1354/vp.44-5-569.
2002 Jolly, R.D., Johnstone, A.C., Hubbard, D.E., Yogalingam, G., Pollard, A. :
Screening for the mucopolysaccharidosis-IIIA gene in Huntaway dogs New Zealand Veterinary Journal 50:122, 2002.
Yogalingam, G., Pollard, T., Gliddon, B., Jolly, R.D., Hopwood, J.J. :
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs Genomics 79:150-153, 2002. Pubmed reference: 11829484. DOI: 10.1006/geno.2002.6699.
2001 Jolly, R.D., Ehrlich, P.C., Franklin, R.J.M., Macdougall, D.F., Palmer, A.C. :
Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired dachshund Veterinary Record 148:564-567, 2001. Pubmed reference: 11370881.
2000 Aronovich, E.L., Carmichael, K.P., Morizono, H., Koutlas, I.G., Deanching, M., Hoganson, G., Fischer, A., Whitley, C.B. :
Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds Genomics 68:80-84, 2000. Pubmed reference: 10950929. DOI: 10.1006/geno.2000.6275.
Jolly, R.D., Allan, F.J., Collett, M.G., Rozaklis, T., Muller, V.J., Hopwood, J.J. :
Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia New Zealand Veterinary Journal 48:144-148, 2000.
1998 Fischer, A., Carmichael, K.P., Munnell, J.F., Jhabvala, P., Thompson, J.N., Matalon, R., Jezyk, P.F., Wang, P., Giger, U. :
Sulfamidase deficiency in a family of Dachshunds - a canine model of mucopolysaccharidosis IIIAa (Sanfilippo A) Pediatric Research 44:74-82, 1998. Pubmed reference: 9667374.

Edit History

  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 20 Sep 2012
  • Changed by Frank Nicholas on 23 Jan 2018