MYH9-related disorders: Report on a patient of greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation

Marina Economou, Spyros P. Batzios, Alessandro Pecci, Nikoletta Printza, Anna Savoia, Serena Barozzi, Stamatia Theodoridou, Aikaterini Teli, Georgios Psillas, Dimitrios I. Zafeiriou

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)412-415
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume34
Issue number6
DOIs
Publication statusPublished - Aug 2012

Keywords

  • Fechtner syndrome
  • MYH9-related disorders
  • nonmuscle myosin IIA
  • p.R1165C mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

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