OMIA 001608-9615 : May-Hegglin anomaly in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 155100 (trait) , 160775 (gene)

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."

Breed: Pug.

Associated gene:

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

Variants

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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.

Reference


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.

Edit History


  • Created by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Imke Tammen2 on 16 Sep 2021