MYH9-related Disorder in a Family: Autosomal Dominant Epstein Giant Platelet Syndrome / 대한소아혈액종양학회지

ABSTRACT

The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). We experienced a family with macrothrombocytopenia without leukocyte inclusion. A 5-year-old girl was found to have macrothrombocytopenia incidentally. Her father also had macrothromtocytopenia, but had been suffering from hearing loss and chronic renal failure. Meticulous search by light and electron microscopy failed to detect leukocyte inclusions. To our knowledge, these cases seem to be the first description of autosomal dominant Epstein giant platelet syndrome in Korea.