title: MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
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.
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. marina@med.auth.gr
authors.forename: Marina
authors.initials: M
authors.lastname: Economou
authors.forename: Spyros P
authors.initials: SP
authors.lastname: Batzios
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pecci
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Printza
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.forename: Serena
authors.initials: S
authors.lastname: Barozzi
authors.forename: Stamatia
authors.initials: S
authors.lastname: Theodoridou
authors.forename: Aikaterini
authors.initials: A
authors.lastname: Teli
authors.forename: Georgios
authors.initials: G
authors.lastname: Psillas
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006115:Greece; D006417:Hematuria / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains