This mutation is autosomal dominant and is thereby inherited if one or both parents carry the mutated gene. However, there have been cases where Epstein Syndrome has been sporadic or non-congenital. Mutations are found in the nonmuscle myosin heavy chain IIA and is associated with chromosome 22. The MYH9 gene encodes for tissues including platelets, cochlea, renal cells, neutrophils and eyes. Pathophysiology
The main symptom in Epstein Syndrome is thrombocytopaenia. Thrombocytopaenia is generally inherited as an autosomal dominant gene and platelets are found to aggregate with either epinephrine or collagen. Platelets assist in blood clotting and coagulate when there are damages blood vessels. This coagulation attempts to cease bleeding. Thrombocytopaenia means there is low platelet volume in the blood. This means there are less platelets to coagulate in presence of a damaged blood vessel, which can result in bleeding problems. The platelets are large (macrothrombocytopenia) and often consist of neutrophil inclusions. The large size of platelets may be due to excess microtubule coils and tublin. This large size of the platelets also affects their ability to bind to each other to seal damaged blood vessels and stop bleeding.Nephritis involves the inflammation of the kidney and this inflammation results in a reduced ability to filter blood and remove nitrogenous wastes. This excessive accumulation of wastes will result in a continued build-up of wastes including urea which interferes with metabolism.One of the kidneys functions include osmoregulation which involves the regulation of osmotic pressure in the blood by regulating the water content in blood pressure.
Patient 1 was only diagnosed with Epstein syndrome at the age of thirty-three where the mutation in the nonmuscle myosin was noticed. His eldest son also carried the same mutation.An Epstein syndrome patient with oral lesions was recorded to be the first with this symptom. The patient was a twenty-six-year-old female who was diagnosed with thrombocytopaenia with purpura at age four. She was then finally diagnosed with Epstein syndrome at twenty-two years old when she developed symptoms for hearing loss as well as proteinuria and hematuria revealing poor kidney function. After an oral examination, palatal purpua in her mouth was observed.A Japanese male was diagnosed with sporadic Epstein syndrome where both his parents did not have the R702H mutation. He was initially diagnosed with chronic macrothrombocytopaenia at three years old and throughout childhood symptoms for hearing loss and proteinuria were observed. At 24 years old his kidney failure had severely progressed as well as his hearing loss and thrombocytopenia. A genetic test confirmed he had the R702H mutation despite having no familial record of Epstein syndrome. References


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