OMIA 001342-9913 : Mucopolysaccharidosis IIIB in Bos taurus

In other species: emu , dog , 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: 2007

Cross-species summary: Also known as Sanfilippo syndrome type B

Molecular basis: In what must be a sign of the times, Karageorgos et al. (2007) documented the first reported occurrence of this disorder in cattle and, in the same paper, also reported its molecular basis; in this case a missense mutation E452K (c.1354G>A) in the gene for alpha-N-acetylglucosaminidase (NAGLU).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NAGLU N-acetylglucosaminidase, alpha Bos taurus 19 NC_037346.1 (42618464..42625472) 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
Mucopolysaccharidosis IIIB NAGLU missense UMD3.1 19 g.43264699G>A c.1354G>A p.E452K 2007 17458708 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2007 Karageorgos, L., Hill, B., Bawden, MJ., Hopwood, JJ. :
Bovine mucopolysaccharidosis type IIIB. Journal of Inherited Metabolic Disease 30:358-64, 2007. Pubmed reference: 17458708. DOI: 10.1007/s10545-007-0539-5.

Edit History


  • Created by Frank Nicholas on 09 Sep 2008
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 20 Feb 2013