title: [The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].
abstract: BACKGROUND
  Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9.
  
  
  METHODS
  We report in a young African woman presenting as a May-Hegglin anomaly a new mutation of the MYH9 gene. In regard of this case we present a brief review of the MYH9 syndrome.
  
  
  CONCLUSIONS
  The MYH9 syndrome includes now several clinical entities who share some common clinical and biological characteristics such as a thrombocytopenia with giant platelets, presence or absence of other manifestations including Dohle like bodies, nephritis, sensorineural hearing loss, cataract. We report a new case in which a new mutation of the MYH9 gene was evidenced.
authors.affiliation: Service de médecine interne, CHU la Conception, APHM, boulevard Baille, 13385 Marseille cedex 05, France. nicolas.schleinitz@ap-hm.fr
authors.forename: N
authors.initials: N
authors.lastname: Schleinitz
authors.forename: R
authors.initials: R
authors.lastname: Favier
authors.forename: K
authors.initials: K
authors.lastname: Mazodier
authors.forename: A
authors.initials: A
authors.lastname: Difeo
authors.forename: M
authors.initials: M
authors.lastname: Ebbo
authors.forename: V
authors.initials: V
authors.lastname: Veit
authors.forename: Y
authors.initials: Y
authors.lastname: Berda-Haddad
authors.forename: E
authors.initials: E
authors.lastname: Bernit
authors.forename: P
authors.initials: P
authors.lastname: Heudier
authors.forename: G
authors.initials: G
authors.lastname: Kaplanski
authors.forename: L
authors.initials: L
authors.lastname: Camoin
authors.forename: V
authors.initials: V
authors.lastname: Bardet
authors.forename: J-R
authors.initials: JR
authors.lastname: Harle
mesh_terms: D000225:Adenine; D000293:Adolescent; D005091:Exons; D005260:Female; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*; D013941:Thymine
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains; D000225:Adenine; D013941:Thymine