OMIA:001342-8790 : Mucopolysaccharidosis IIIB in Dromaius novaehollandiae (emu)

In other species: dog , pig , taurine cattle

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: 2001

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

Molecular basis: Aronovich et al. (2001): "The two affected emus were found to be homozygous for a 2-bp deletion, 1098-1099delGG, in exon 6 [of NAGLU]. The resulting frameshift predicts a longer ORF of 2370 bp encoding a polypeptide with 37 additional amino acids and 387 altered amino acids. "

Prevalence: Genger et al. (2018): "Screening blood samples from 78 breeding emus revealed 14 (18%; 9 males, 4 females, one unknown gender) carriers; an overall .09 mutant NAGLU allele frequency."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NAGLU Dromaius novaehollandiae 22 NC_088119.1 (11247975..11252443) NAGLU Homologene, Ensembl , NCBI gene


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
519 Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) Naturally occurring variant c.1098_1099delGG 2001 11414757

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:001342-8790: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2018 Genger, S.C., Mizukami, K., Martin, M.P., Applegate, J.R., Barnes, H.J., Giger, U. :
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. Avian Pathol 47:100-107, 2018. Pubmed reference: 28911234. DOI: 10.1080/03079457.2017.1380293.
2015 Palmieri, C., Giger, U., Wang, P., Pizarro, M., Shivaprasad, H.L. :
Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae). Vet Pathol 52:160-9, 2015. Pubmed reference: 24723233. DOI: 10.1177/0300985814529314.
2001 Aronovich, E.L., Johnston, J.M., Wang, P., Giger, U., Whitley, C.B. :
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): An avian model of Sanfilippo syndrome type B Genomics 74:299-305, 2001. Pubmed reference: 11414757. DOI: 10.1006/geno.2001.6552.

Edit History

  • Created by Frank Nicholas on 29 Nov 2005
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 22 Mar 2012
  • Changed by Frank Nicholas on 26 Sep 2017
  • Changed by Frank Nicholas on 13 Aug 2018