OMIA 001342-8790 : Mucopolysaccharidosis IIIB in Dromaius novaehollandiae

In other species: dog , cattle

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: 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 - no genomic information (-..-) NAGLU Ensembl

Variants

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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 deletion, small (<=20) c.1098_1099delGG 2001 11414757

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.
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