OMIA:001608-9615 : May-Hegglin anomaly in Canis lupus familiaris
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155100 (trait) , 160775 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific symbol: MHA
Molecular basis: Flatland et al. (2011): "genomic DNA sequencing analysis of the dog's MYH9 gene identified a single point mutation, resulting in substitution of lysine for glutamine at the 1841 amino acid position; this mutation is identical to one identified in people with MHA."
Clinical features: Flatland et al. (2011): "An 8-year-old female spayed Pug dog was presented for evaluation of cutaneous lesions occurring secondary to immunosuppressive treatment of presumed immune-mediated thrombocytopenia. Abnormal hematologic findings included persistent thrombocytopenia, macrothrombocytes, and variably shaped, often fusiform, blue cytoplasmic inclusions in neutrophils."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYH9||myosin, heavy chain 9, non-muscle||Canis lupus familiaris||10||NC_051814.1 (28817559..28909010)||MYH9||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|
|55||Pug||May-Hegglin anomaly||MYH9||missense||Naturally occurring variant||CanFam3.1||10||g.28120346G>A||c.5521G>A||p.(E1841L)||NM_001110767.1; NP_001104237.1; previously incorrectly listed in OMIA as p.(Q1841L) (corrected 11/2/2022)||2011||21554370||Genomic coordinates in CanFam3.1 provided by Robert Kuhn.|
|2011||Flatland, B., Fry, M.M., Baek, S.J., Bahn, J.H., LeBlanc, C.J., Dunlap, J.R., Carroll, R.C., Kosiba, D.J., Millsaps, D.J., Schleis, S.E. :|
|May-Hegglin anomaly in a dog. Vet Clin Pathol 40:207-14, 2011. Pubmed reference: 21554370 . DOI: 10.1111/j.1939-165X.2011.00320.x.|
- Created by Frank Nicholas on 26 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 16 Sep 2021