OMIA:001342-8790 : Mucopolysaccharidosis IIIB in Dromaius novaehollandiae (emu)
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
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. "
Have human generated variants been created, e.g. through genetic engineering and gene editing
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."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NAGLU||Dromaius novaehollandiae||NW_020453686.1 (112118..116196)||NAGLU||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|519||Mucopolysaccharidosis IIIB||NAGLU||deletion, small (<=20)||Naturally occurring variant||c.1098_1099delGG||2001||11414757|
Cite this entry
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.|
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