Mucopolysaccharidosis IIIB (Sanfilippo Syndrome B) in a Commercial Emu (Dromaius novaehollandiae) Flock
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described. Between 2012 and 201...
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| Vydáno v: | Avian Pathol |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5762256/ https://ncbi.nlm.nih.gov/pubmed/28911234 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/03079457.2017.1380293 |
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| Shrnutí: | Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described. Between 2012 and 2015, ~5–10 juvenile emus from a few weeks to several months of age developed progressive neurological signs and died while others in the flock remained healthy. Necropsy of two affected siblings revealed multiple sites of haemorrhage, cytoplasmic periodic acid-Schiff and Luxol fast blue positive inclusions in neurons, and aggregates of foamy macrophages in visceral organs. Affected emus were homozygous for the 2-base deletion in the α-N-acetylglucosaminidase (NAGLU) gene that causes MPS IIIB in emus. Mutation-specific DNA tests for MPS IIIB in emus were developed. 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. A ‘test and cull male carriers’ program, in which carrier males are culled but carrier females are retained, was proposed to avoid breeding affected emus together, ultimately eliminating the disease from future broods, and preserving the gene pool with as much breeding stock as possible. Molecular genetic diagnostic tests are simple, precise, and permit screening of all breeders for the mutant allele in any flock and can be used to eliminate MPS IIIB-related emu losses through informed breeding. |
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