Details

Autor(en) / Beteiligte

• Savoia, Anna
• De Rocco, Daniela
• Panza, Emanuele
• Bozzi, Valeria
• Scandellari, Raffaella
• Loffredo, Giuseppe
• Mumford, Andrew
• Heller, Paula G
• Noris, Patrizia
• De Groot, Marco R
• Giani, Marisa
• Freddi, Paolo
• Scognamiglio, Francesca
• Riondino, Silvia
• Pujol-Moix, Núria
• Fabris, Fabrizio
• Seri, Marco
• Balduini, Carlo L
• Pecci, Alessandro

Titel

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

Ist Teil von

• Thrombosis and haemostasis, 2010-04, Vol.103 (4), p.826

Ort / Verlag

Germany

Erscheinungsjahr

2010

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.