Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient’s father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes.
*1st Department of Pediatrics
§1st ENT Department, Aristotle University of Thessaloniki
‡Haemoglobinopathy Prevention Unit, Hippokration General Hospital of Thessaloniki, Thessaloniki, Greece
†Department of Internal Medicine, University of Pavia & IRCCS Policlinico, San Matteo Foundation, Pavia, Italy
The authors declare no conflict of interest.
Reprints: Marina Economou, MD, PhD, Th. Sofouli 64 rd, 546 55 Thessaloniki, Greece (e-mail: firstname.lastname@example.org)
Received May 15, 2011
Accepted March 27, 2012