Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 254600 (trait) , 606989 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0009694: myeloperoxidase deficiency

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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"

Breed: Italian Hound (Dog) (VBO_0200714).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: