Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

Boisseau P.; Debord C.; Eveillard M.; Quemener A.; Sigaud M.; Giraud M.; Talarmain P.; Thomas C.; Landeau G.; Bezieau S.; Petesch B. Pan; Bene M. C.; Fouassier M.

首页> 外文期刊>Platelets >Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

【24h】

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

机译：与伯纳尔 - 灵魂综合征相关的GP9中不确定意义的两种新变种：它们是否真正突变？

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Bernard-Soulier syndrome (BSS) is an autosomal recessive major thrombocytopathy, the symptoms of which are mainly marked by mucocutaneous bleeding. This rare disease, initially described in the 1970s, is the result of an abnormal formation of the glycoprotein complex Ib-IX-V (GP Ib-IX-V), a platelet receptor of von Willebrand factor. A large number of mutations, sometimes involving the GP9 gene, have been described as possibly responsible for the disease. We report here the case of a BSS patient who presented with persistent thrombocytopenia (31x10(9)/L) and decreased surface expression of GPIb-IX-V on large platelets with anisocytosis. Thorough molecular analyses disclosed two previously unreported GP9 variants, respectively c.230TA (p.Leu77Gln) and c.255CA (p.Asn85Lys). Both are likely to modify the conformation of GP-IX interactions with other glycoproteins of the Ib-IX-V complex and thus proper expression of this complex on the membrane of platelets.

机译：Bernard-Sourier综合征（BSS）是一种常染色体隐性主要血小板病变，其症状主要由粘皮肤出血标记。这种罕见的疾病最初在20世纪70年代描述，是糖蛋白复合物IB-IX-V（GP IB-IX-V）的异常形成，von Willebrand因子的血小板受体。已经描述了大量突变，有时涉及GP9基因，可能对该疾病负责。在此报告此处的BSS患者患有持续血小板减少症（31x10（9）/ L）的病例（31x10（9）/ L），并在具有异胞菌作用的大血小板上降低GPIB-IX-V的表面表达。彻底的分子分析公开了两个先前未报告的GP9变体，分别为C.230T＆GT; A（P.LEU77GLN）和C.255C＆GT; a（p.asn85s）。两者都可能改变与IB-IX-V复合物的其他糖蛋白的GP-IX相互作用的构象，因此在血小板膜上适当地表达该络合物。

著录项

来源
《Platelets》 |2018年第3期|共3页
作者
Boisseau P.; Debord C.; Eveillard M.; Quemener A.; Sigaud M.; Giraud M.; Talarmain P.; Thomas C.; Landeau G.; Bezieau S.; Petesch B. Pan; Bene M. C.; Fouassier M.;
展开▼
作者单位

CHU Nantes Serv Genet Med Nantes France;

CHU Nantes Serv Hematol Biol Nantes France;

CHU Nantes Serv Hematol Biol Nantes France;

Univ Nantes INSERM CNRS CRCINA Nantes France;

CHU Nantes Ctr Reg Traitement Homophiles Nantes France;

CHU Nantes Serv Genet Med Nantes France;

CHU Nantes Serv Genet Med Nantes France;

CHU Nantes Serv Genet Med Nantes France;

CHU Nantes Serv Genet Med Nantes France;

CHU Nantes Serv Genet Med Nantes France;

CHU Brest Ctr Reg Traitement Homophiles Brest France;

CHU Nantes Serv Hematol Biol Nantes France;

CHU Nantes Serv Hematol Biol Nantes France;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Bernard-Soulier syndrome; GP9;

机译：Bernard-Sourier综合症;GP9;

相似文献

外文文献
中文文献
专利

1. Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations? [J] . Boisseau P., Debord C., Eveillard M., Platelets . 2018,第3期

机译：与伯纳尔 - 灵魂综合征相关的GP9中不确定意义的两种新变种：它们是否真正突变？
2. Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant | Haematologica [J] . Silvia Vettore, Raffaella Scandellari, Stefano Moro, Haematologica . 2008,第11期

机译：血小板von Willebrand因子受体GPIb / IX / V的GPIbα链富含亮氨酸的重复序列中的新点突变，导致遗传性伯纳德-苏里耶综合征的显性形式影响两个无关家族：血液学
3. BRCA 1/2 tests and beyond, across a breast center population: 10 years analysis and review of mutations and variants of uncertain significance [J] . Intelligence: A Multidisciplinary Journal . 2020,第期

机译：BRCA 1/2的测试及超越，横跨乳房中心人口：10年分析和审查突变和不确定意义的变异性
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Medical Decision Making among Individuals with a Variant of Uncertain Significance in a Hereditary Cancer Gene and those with a CHEK2 Pathogenic Variant [D] . Almanza, Deanna J. 2019

机译：在遗传癌基因中具有不确定意义的个体的医学决策，以及Chek2致病变异的人
6. Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report [O] . Nami Mohammadian Khonsari, Sahar Mohammad Poor Nami, Benyamin Hakak-Zargar, 2020

机译：杂合变体的不确定意义的突变作为严重矮小的可能原因：案例报告
7. Novel point mutation in a leucine-rich repeat of the GP1balfa chain of the platelet von Willebrand factor receptor, GP1b/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant [O] . Vettore S, Scadellari R, Moro S, 2008

机译：血小板von Willebrand因子受体GP1b / IX / V的GP1balfa链富含亮氨酸的重复序列中出现新的点突变，导致遗传性伯纳德-苏里耶综合症的显性形式影响两个无关家族：N41H变体
8. Identification of Variants in Breast Cancer Susceptibility Genes and Determination of Functional and Clinical Significance of Novel Mutations. [R] . Maxwell, K. N. 2014

机译：乳腺癌易感基因变异的鉴定及新突变的功能和临床意义的确定。

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

摘要

著录项

相似文献

相关主题

期刊订阅