title: Report of a young girl with MYH9 mutation and review of the literature.
abstract: MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing. We discuss our patient's clinical presentation, now with 12 years of follow-up. We also discuss management and her possible prognosis given her specific MYH9 mutation.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology-Oncology, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Landi
authors.forename: Evelyn
authors.initials: E
authors.lastname: Lockhart
authors.forename: Sara E
authors.initials: SE
authors.lastname: Miller
authors.forename: Michael
authors.initials: M
authors.lastname: Datto
authors.forename: Catherine
authors.initials: C
authors.lastname: Rehder
authors.forename: Angela
authors.initials: A
authors.lastname: Kanaly
authors.forename: Courtney D
authors.initials: CD
authors.lastname: Thornburg
mesh_terms: D002544:Cerebral Infarction / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics / Q000151:congenital
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains