OMIA:001342-9913 : Mucopolysaccharidosis IIIB in Bos taurus (taurine cattle)

In other species: emu , dog , pig

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 252920 (trait) , 609701 (gene)

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

Inheritance: Karageorgos et al. (2007): "All affected animals were derived from a 'closed herd' into which no new genetic material had been brought for approximately 30 years. ... The herd consisted of 1300 breeder cows and bulls were used at 3%. Bulls were used for four seasons; hence there was ample scope for inbreeding to occur. Under these breeding conditions about 4–5 clinically affected animals were observed each year ... ." Breed information was kindly provided by L. Taylor.

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).

Clinical features: Karageorgos et al. 2007: "No clinical signs were observed at weaning (6–8 monthsof age). Clinical signs develop progressively over the lifespan of affected cattle and include: hairy ears and longer muzzle hairs; bigger-boned head; loss of herding instinct, aimless wandering and tendency to stand alone; growth to a smaller stature, 85% of normal height; progressive loss of alertness ... ; development of cautious behaviour around objects like yarding gates, but not blindness as judged by avoidance of obstacles in their path; and becoming very placid and sedate in nature. Clinical signs are usually evident in affected animals atapproximately 2 years of age, but can be observed at 12 months at the very earliest. Animals live to approximately 3–5 years in a paddock situation ... . When caredfor in a less hazardous environment they will live for 5–6 years but eventually show progressive ataxia and stumbling gait (affecting fore and hind limbs), swaying of the hind quarters and loss of body condition, and become emaciated and die."

Pathology: Karageorgos et al. 2007: The "missense mutation resulted in only 1.5% of normal NAGLU activity. ... Histopathology and electron microscopy revealed widespread neuronal lesions, vacuolated hepatocytes and apparent ganglioside accumulation as indicated by membranous whorls ... . The tissues most severely affected included the liver, kidney and central nervous system ... ."

Breed: Santa Gertrudis (Cattle) (VBO_0000368).
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
NAGLU N-acetylglucosaminidase, alpha Bos taurus 19 NC_037346.1 (42618482..42625470) 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.

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
202 Santa Gertrudis (Cattle) Mucopolysaccharidosis IIIB NAGLU missense Naturally occurring variant ARS-UCD1.2 19 g.42624367G>A c.1354G>A p.(E452K) 2007 17458708 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001342-9913: 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.

2021 Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. :
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y.
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
  • Changed by Imke Tammen2 on 24 Nov 2021
  • Changed by Imke Tammen2 on 26 Mar 2024