OMIA:001309-9615 : Mucopolysaccharidosis IIIA in Canis lupus familiaris (dog) |
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 252900 (trait) , 605270 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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:
Dachshund, Wire-Haired (Dog) (VBO_0200423).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SGSH | N-sulfoglucosamine sulfohydrolase | Canis lupus familiaris | 9 | NC_051813.1 (2173239..2179357) | SGSH | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 577 | Huntaway (Dog) | Mucopolysaccharidosis IIIA | SGSH | insertion, small (<=20) | Naturally occurring variant | CanFam3.1 | 9 | g.1544321_1544322insA | c.685_686insA | p.(Y229*) | NM_001003114.1; NP_001003114.1; published as c.708-709insA (which are mRNA and not cDNA coordinates) | 2002 | 11829484 | |||
| 954 | Dachshund (Dog) | Mucopolysaccharidosis IIIA | SGSH | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 9 | g.1544376_1544378delCCA | c.740_742delCCA | p.(T247del) | NM_001003114.1; NP_001003114.1; published as c.737_739delCCA; coordinates in the table have been updated in accordance with the HGVS 3' rule | 2000 | 10950929 | Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:001309-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Cocostîrc, V., Paștiu, A.I., Pusta, D.L. : |
| An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568. | |
| Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : | |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| 2021 | Jolly, R.D., Dittmer, K.E., Jones, B.R., Worth, A.J., Thompson, K.G., Johnstone, A.C., Palmer, D.N., Van de Water, N.S., Hemsley, K.M., Garrick, D.J., Winchester, B.G., Walkley, S.U. : |
| Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University. N Z Vet J 69:255-266, 2021. Pubmed reference: 33969809. DOI: 10.1080/00480169.2021.1928564. | |
| 2020 | Story, B.D., Miller, M.E., Bradbury, A.M., Million, E.D., Duan, D., Taghian, T., Faissler, D., Fernau, D., Beecy, S.J., Gray-Edwards, H.L. : |
| Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101. DOI: 10.3389/fvets.2020.00080. | |
| 2019 | Winner, L.K., Marshall, N.R., Jolly, R.D., Trim, P.J., Duplock, S.K., Snel, M.F., Hemsley, K.M. : |
| Evaluation of disease lesions in the developing canine MPS IIIA brain. JIMD Rep 43:91-101, 2019. Pubmed reference: 29923090. DOI: 10.1007/8904_2018_110. | |
| 2017 | 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 40:443-453, 2017. Pubmed reference: 27832416. DOI: 10.1007/s10545-016-9994-1. | |
| 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. | |
| 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