OMIA:002028-9615 : Myeloperoxidase deficiency in Canis lupus familiaris (dog)
Categories: Haematopoietic system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific symbol: MPOD
History: The report by Gentilini et al. (2016) of one affected Italian hound is the first published report of this inherited disorder in any non-laboratory animals species.
Inheritance: Since the report by Gentilini et al. (2016) involved just one dog from a local dog shelter, they were not able to provide any direct evidence on inheritance. However, given that this disorder involves homozygosity for an allele at a locus encoding an enzyme, the disorder is most likely to be autosomal recessive.
Molecular basis: Gentilini et al. (2016): "a homozygous c.1987C>T (Ensembl transcript ID: ENSCAFT00000027699) or c.1753C>T (Ensembl transcript ID: ENSCAFT00000049922) [nonsense] substitution, which results in a premature termination codon (p.663Arg*) in the superoxide domain" of the gene encoding myeloperoxidase (MPO).
Pathology: Gentilini et al. (2016): "During routine examinations, we identified a 12-year-old Italian hound dog from the local dog shelter that despite the absence of any evident symptoms of the underlying disease showed primary MPOD in the polymorphonuclear leucocytes and monocytes. This was evident from a complete blood count on an ADVIA 2120 Siemens Analyser with automated MPO staining for differentiation of white blood cells. In typical staining scattergrams, MPO-positive cells, such as neutrophils and monocytes, are clustered within specified areas demarcated by thresholds. The affected dog showed a scattergram typical for MPOD deficiency in humans with all white blood cells consistently aligned on the left in the large unstained cell area. To confirm the diagnosis, the complete blood count was repeated once a month for three consecutive months with identical findings"
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MPO||myeloperoxidase||Canis lupus familiaris||9||NC_051813.1 (33744696..33734267)||MPO||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|
|342||Italian hound||Myeloperoxidase deficiency||MPO||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||9||g.32929382G>A||c.1936C>T||p.(R646*)||XM_847352.4; XP_852445.2; published as c.1987C>T (Ensembl transcript ID:ENSCAFT00000027699)||2016||27296514|
Cite this entry
|2016||Gentilini, F., Zambon, E., Mancini, D., Turba, M.E. :|
|A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. Anim Genet 47:632-3, 2016. Pubmed reference: 27296514 . DOI: 10.1111/age.12463.|
- Created by Frank Nicholas on 09 Aug 2016
- Changed by Frank Nicholas on 09 Aug 2016