Abstract:
:MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9-RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9-RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9-RD.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Savoia A,De Rocco D,Panza E,Bozzi V,Scandellari R,Loffredo G,Mumford A,Heller PG,Noris P,De Groot MR,Giani M,Freddi P,Scognamiglio F,Riondino S,Pujol-Moix N,Fabris F,Seri M,Balduini CL,Pecci Adoi
10.1160/TH09-08-0593subject
Has Abstractpub_date
2010-04-01 00:00:00pages
826-32issue
4eissn
0340-6245issn
2567-689Xpii
09-08-0593journal_volume
103pub_type
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