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.
Tanaka
Shigenori
S
Department of Research, Osaka Red Cross Blood Centre, Japan. seiken@a1.mbn.or.jp
Hayashi
Tomoya
T
Hori
Yuji
Y
Terada
Chikahiro
C
Han
Kyou Sup
KS
Ahn
Hyo Seop
HS
Bourre
Francois
F
Tani
Yoshihiko
Y
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