Familial cases with MYH9 disorders caused by MYH9 S96L mutation
Article first published online: 14 FEB 2013
© 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society
Volume 55, Issue 1, pages 102–104, February 2013
How to Cite
Murayama, S., Akiyama, M., Namba, H., Wada, Y., Ida, H. and Kunishima, S. (2013), Familial cases with MYH9 disorders caused by MYH9 S96L mutation. Pediatrics International, 55: 102–104. doi: 10.1111/j.1442-200X.2012.03619.x
- Issue published online: 14 FEB 2013
- Article first published online: 14 FEB 2013
- Received 9 August 2011; revised 7 January 2012; accepted 1 March 2012.
- Epstein syndrome;
- MYH9 disorders;
- MYH9 gene;
- nonmuscle myosin heavy chain IIA;
- renal failure
We report familial cases with MYH9 disorders: a 1-year-old Japanese boy who presented only with macrothrombocytopenia, and his 33-year-old father who had been diagnosed with refractory chronic idiopathic thrombocytopenic purpura, and suffered from hearing loss and chronic renal failure. Peripheral blood smears revealed giant platelets but no Döhle body-like cytoplasmic inclusion bodies in neutrophils. Heterozygous MYH9 S96L mutations were found in the patient and his father, resulting in the diagnosis of a familial case with MYH9 disorders. The possibility of MYH9 disorders including Epstein syndrome should be assessed in cases of thrombocytopenia through the careful examination of hematological features.