MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder
Zaninetti, C.; De Rocco, D.; Giangregorio, T.; Bozzi, V.; Demeter, J.; Leoni, P.; Noris, P.; Ryhänen, S.; Barozzi, S.; Savoia, A.; Pecci, A. · Zeitschrift für Orthopädie und Unfallchirurgie · 2019 · Heft 01 · S. 087 bis 094
Bibliografische Angaben
Zusammenfassung
Abstract MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities. The spectrum of mutations found in MYH9-RD patients is limited and the incidence and severity of the non-congenital features are predicted by the causative MYH9 variant. In particular, different alterations of the C-terminal ta…
