Clinical and molecular insights into Glanzmann's thrombasthenia in China

被引：17

作者：

Zhou, L. ^{[1
,2
,3
]}

Jiang, M. ^{[1
,3
]}

Shen, H. ^{[1
,3
]}

You, T. ^{[1
,3
]}

Ding, Z. ^{[1
,3
]}

Cui, Q. ^{[1
,3
]}

Ma, Z. ^{[1
,3
]}

Yang, F. ^{[1
,3
]}

Xie, Z. ^{[1
,3
]}

Shi, H. ^{[1
,3
]}

Su, J. ^{[1
,3
]}

Cao, L. ^{[1
,3
]}

Lin, J. ^{[1
,3
]}

Yin, J. ^{[1
,3
]}

Dai, L. ^{[1
,3
]}

Wang, H. ^{[4
]}

Wang, Z. ^{[1
,3
]}

Yu, Z. ^{[1
,3
]}

Ruan, C. ^{[1
,3
]}

Xia, L. ^{[1
,3
,5
]}

机构：

[1] Soochow Univ, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis, Affiliated Hosp 1,Minist Hlth, Suzhou, Peoples R China

[2] Nantong Univ, Dept Hematol, Affiliated Hosp, Nantong, Peoples R China

[3] Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China

[4] Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Genet Sect, Oklahoma City, OK 73190 USA

[5] Oklahoma Med Res Fdn, Cardiovasc Biol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA

来源：

CLINICAL GENETICS | 2018年 / 94卷 / 02期

基金：

中国国家自然科学基金; 美国国家卫生研究院;

关键词：

ethnic; Glanzmann's thrombasthenia; platelet; variant; IIb3; PLATELET GLYCOPROTEIN-IIB; ALPHA-IIB; ALPHA-IIB-BETA-3; INTEGRIN; MESSENGER-RNA; ITGB3; GENES; SOUTHERN INDIA; MUTATIONS; ITGA2B; SUBUNIT; DIVERSITY;

D O I：

10.1111/cge.13366

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin IIb3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in non-consanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18.3%) in Han patients than other ethnic populations in GT-prone countries. Compared with other ethnic populations, there was no significant difference in the distribution of GT types. Han females suffered more severe bleeding and had a poorer prognosis. We identified a total of 43 different ITGA2B and ITGB3 variants, including 25 previously unidentified, in 45 patients. These variants included 14 missense, 4 nonsense, 4 frameshift, and 3 splicing site variants. Patients with the same genotype generally manifested the same GT type but presented with different bleeding severities. This suggests that GT clinical phenotype does not solely depend on genotype. Our study provides an initial, yet important, clinical and molecular characterization of GT heterogeneity in China.

引用

页码：213 / 220

页数：8