Hereditary Myeloperoxidase Deficiency
Breed: Italian Roughhaired Segugio
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Hereditary Myeloperoxidase Deficiency
OMIA
2028
Gene Name
MPO
Mutation
p.663Arg*
Test Type
Genetic Disease/Disorder
Details
An autoimmune disease. Considered to be autosomal recessive in 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. [from OMIA]
Details 2
"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. 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....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" [from OMIA]
Published 2
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.
Inheritance
AR
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
MOP
Mutation
unpublished
Nature of test
mutation test
FCI Number
198
GTP Breed
Italian roughhaired Segugio