[A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].
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.
Wang
Z
Z
Jiangsu Institute of Hematology, First Affiliated Hospital of Suzhou University, Suzhou 215006, China.
Shi
J
J
Han
Y
Y
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
D008565:Membrane Proteins; D019038:Platelet Glycoprotein GPIb-IX Complex; D012310:Ristocetin; D013912:Threonine; D000409:Alanine