Journal
ACTA HAEMATOLOGICA
Volume 129, Issue 2, Pages 106-113Publisher
KARGER
DOI: 10.1159/000342123
Keywords
Gene mutation; Macrothrombocytopenia; MYH9-related disease; Neutrophil inclusion; Pathological analysis
Categories
Funding
- National Science Foundation of China [81070395]
- Jiangsu Province's Key Medical Center [ZX201102]
- Priority Academic Program Development of Jiangsu Higher Education Institutions
Ask authors/readers for more resources
MYH9-related disease (MYH9-RD) is an autosomal dominant disorder caused by mutations in the MYH9 gene. It is characterized by a triad of giant platelets, thrombocytopenia, and characteristic Dohle body-like granulocyte inclusions. In this study we report 10 unrelated patients with MYH9-RD in whom the following seven MYH9 gene mutations were found: W33R, p.Q1443_K1445dup, R702H, D1424N, E1841K, R1933X, and E1945X (the first two were novel mutations). The region of the MYH9 mutation determines in some regards the phenotype, but clinical expression can vary between individuals with the same mutation. The neutrophil inclusion bodies of two patients were too small to be detected, but could be found with immunofluorescence staining. Immunoblotting analysis revealed that the calculated NMMHCIIA/beta-actin ratio for MYH9-RD neutrophils was 39% of normal controls. Kidney biopsy showed segmental glomerulosclerosis and NMMHC-IIA expression was decreased in podocytes. This disease is not as rare as originally thought. In any individual with persistent macrothrombocytopenia and no response to corticosteroids and immunosuppressive agents, even if neutrophil inclusions were inconspicuous in routine staining, MYH9-RD should be suspected. Copyright (C) 2012 S. Karger AG, Basel
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available