OMIA 001342-9615 : Mucopolysaccharidosis IIIB in Canis lupus familiaris |
In other species:
emu
,
cattle
Possibly relevant human trait(s) and/or gene(s) (MIM number):
252920
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2003
Cross-species summary:
Also known as Sanfilippo syndrome type B
Molecular basis:
To FN's knowledge, the only mention of this causal mutation is in the abstract by Ellinwood et al. (2003 conference of the American Society of Human Genetics). These authors reported the likely causal variant to be "a poly(A) insertion (~45 adenines) in the sixth exon of the NAGLU gene. The poly(A) insert is flanked on the 3 border by a 13 bp repeat of the native NAGLU sequence immediately 5 to the poly(A) insert. The insert was found to be polymorphic in the affected individual, differing by the number of adenine residues present. The insert is predicted to lead to the insertion of ~15 lysine residues starting after amino acid 704 of the unmodified protein sequence."
If anyone knows of a peer-reviewed publication describing this discovery, please email frank.nicholas@sydney.edu.au
Genetic testing: A DNA test is available from PennGen Laboratories: http://research.vet.upenn.edu/penngen/PennGenHome/tabid/91/Default.aspx Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NAGLU | N-acetylglucosaminidase, alpha | Canis lupus familiaris | 9 | NC_006591.3 (20414094..20407296) | NAGLU | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Schipperke | Mucopolysaccharidosis IIIB | NAGLU | insertion, gross (>20) | "a poly(A) insertion (~45 adenines) in the sixth exon of the NAGLU gene. The poly(A) insert is flanked on the 3 border by a 13 bp repeat of the native NAGLU sequence immediately 5 to the poly(A) insert. The insert was found to be polymorphic in the affected individual, differing by the number of adenine residues present. The insert is predicted to lead to the insertion of ~15 lysine residues starting after amino acid 704 of the unmodified protein sequence." | 2003 | Reference not in PubMed; see OMIA 001342-9615 for reference details |
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.
| 2003 | Ellinwood, N.M., Henthorn, P.S., Giger, U., Haskins, M.E. : | |
| Mucopolysaccharidosis type IIIB: Identification of the causative mutation in the canine model American Society of Human Genetics, 2003 conference :abstract 1635, 2003. | ||
| Ellinwood, NM., Wang, P., Skeen, T., Sharp, NJ., Cesta, M., Decker, S., Edwards, NJ., Bublot, I., Thompson, JN., Bush, W., Hardam, E., Haskins, ME., Giger, U. : | ||
| A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26:489-504, 2003. Pubmed reference: 14518829. |
Edit History
- Created by Frank Nicholas on 18 Nov 2009
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 26 Sep 2017
- Changed by Frank Nicholas on 23 Jan 2018