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OMIA 001342-9615 : Mucopolysaccharidosis IIIB in Canis lupus familiaris

In other species: emu , cattle , pig

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. 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
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
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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