title: Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).
abstract: Congenital macrothrombocytopenia are a group of disorders which may be due to mutations in the MYH9 gene. This gene linked to chromosome 22 encodes for the nonmuscle heavy chain IIA that is expressed in platelets and in other tissues. In the past these disorders were known as May-Hegglin anomaly, Sebastian, Fechtner and Epstein syndromes. The main common feature is the presence of thrombocytopenia with large platelets. The evaluation of all reported cases indicates that thrombotic events appear to occur only in patients with May Hegglin variants. Whether this is due to the higher prevalence of this variant as compared with the others or to a specific difference is still unknown. However, the occurrence of thrombotic events in only one of these conditions may be used as a new tentative differentiability feature.
authors.affiliation: Department of Medical and Surgical Sciences, University of Padua Medical School, Via Ospedale 105, Padua 35128, Italy. antonio.girolami@unipd.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Girolami
authors.initials: G
authors.lastname: Antonio
authors.forename: Silvia
authors.initials: S
authors.lastname: Vettore
authors.forename: Vettore
authors.initials: V
authors.lastname: Silvia
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bonamigo
authors.forename: Bonamigo
authors.initials: B
authors.lastname: Emanuela
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
authors.forename: Fabris
authors.initials: F
authors.lastname: Fabrizio
mesh_terms: D002544:Cerebral Infarction; D006319:Hearing Loss, Sensorineural; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary; D013921:Thrombocytopenia / Q000235:genetics* / Q000151:congenital; D013927:Thrombosis / Q000235:genetics*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains