title: [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].
abstract: OBJECTIVE
  To diagnose a patient with Bernard-Soulier syndrome (BSS) and investigate her gene abnormality.
  
  
  METHODS
  Platelet size and structure were studied under light and electron microscopies. Platelet membrane glycoproteins (GP) were measured by flow cytometry. PCR and DNA sequencing were used to identify gene abnormality.
  
  
  RESULTS
  The patient had thrombocytopenia with giant platelets. Ristocetin-induced platelet agglutination was absent. GP I b/IX complex in the platelet membrane was significantly decreased, which was resulted from an Ala139 Thr substitution in the transmembrane domain of GPIX.
  
  
  CONCLUSIONS
  Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS.
authors.affiliation: Jiangsu Institute of Hematology, First Affiliated Hospital of Suzhou University, Suzhou 215006, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Shi
authors.forename: Y
authors.initials: Y
authors.lastname: Han
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D048429:Cell Size / Q000235:genetics; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D010974:Platelet Aggregation / Q000187:drug effects; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000502:physiology; D012310:Ristocetin / Q000494:pharmacology; D013912:Threonine / Q000235:genetics; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D019038:Platelet Glycoprotein GPIb-IX Complex; D012310:Ristocetin; D013912:Threonine; D000409:Alanine