A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.
Glanzmann's thrombasthenia (GT) is a hereditary bleeding disorder caused by a quantitative or qualitative defect in the integrin alphaIIbbeta3. A new mutation, a T to C substitution at base 258 in the alphaIIb gene, leading to the replacement of Leu55 with Pro, was found by sequence analysis of a patient's alphaIIb cDNA. In transfection experiments using COS7 cells, the cells co-transfected with the mutated alphaIIb cDNA containing C258 and wild-type beta3 cDNA scarcely expressed the alphaIIbbeta3 complex. The Leu55 to Pro substitution in the alphaIIb gene was found to be responsible for this case of Glanzmann's thrombasthenia.
Department of Research, Osaka Red Cross Blood Centre, Japan. seiken@a1.mbn.or.jp
Shigenori
S
Tanaka
Tomoya
T
Hayashi
Yuji
Y
Hori
Chikahiro
C
Terada
Kyou Sup
KS
Han
Hyo Seop
HS
Ahn
Francois
F
Bourre
Yoshihiko
Y
Tani
D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000235:genetics*; D013915:Thrombasthenia / Q000235:genetics*
D018076:DNA, Complementary; D019039:Platelet Glycoprotein GPIIb-IIIa Complex