Document Detail


Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
MedLine Citation:
PMID:  20819594     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterized by the tendency to hemorrhage and the inability of platelets to aggregate in response to agonists. GT is caused by a defect of the platelet glycoprotein IIb/IIIa complex. The objective of this study was to describe the clinical features and the genetic cause of GT in a 6-year-old girl from south China.
METHODS: A three-generation family was studied. The proband patient aged 6 years and her parents undertook examinations of platelet counts, blood film, bleeding time, platelet aggregation, and flow cytometry. All coding exons of the ITGA2B and ITGB3 genes were amplified by polymerase chain reaction (PCR), and direct sequencing was performed for mutational screening on the patient and normal controls consisted of 52 healthy blood donors. Reverse transcription PCR was conducted to test for exon skipping.
RESULTS: The proposita patient showed dispersing platelets, prolonged bleeding time, and severely reduced platelet aggregation in response to the physiological agonists adenosine diphosphate (ADP), epinephrine, collagen, and ristocetin. Flow cytometric measurements showed that the contents of alphaIIb and beta3 were significantly decreased. Sequencing results demonstrated two different types of heterozygous mutations existed in the alphaIIb gene (c.2930delG and IVS15-1delG). The compound mutations were also confirmed in the patient's mother and father separately.
CONCLUSIONS: The alphaIIbbeta3 deficiency of the proband was caused by two compound ITGA2B mutations, which were first reported in Chinese GT patients. The IVS15-1delG was first confirmed to cause an exon skipping.
Authors:
Jia-yong Zheng; Yan-hui Jin; Yong-lin Zhu; Pei-pei Jin; De-ting Zhang; Zi-bing Jin
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Chinese medical journal     Volume:  123     ISSN:  0366-6999     ISO Abbreviation:  Chin. Med. J.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-09-07     Completed Date:  2010-12-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7513795     Medline TA:  Chin Med J (Engl)     Country:  China    
Other Details:
Languages:  eng     Pagination:  1397-401     Citation Subset:  IM    
Affiliation:
Department of Laboratory Medicine, Third People's Hospital of Wenzhou, Wenzhou, Zhejiang 325000, China.
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MeSH Terms
Descriptor/Qualifier:
Asian Continental Ancestry Group
Child
Female
Flow Cytometry
Heterozygote
Humans
Integrin alpha2 / genetics*
Integrin beta3 / genetics
Mutation
Pedigree*
Reverse Transcriptase Polymerase Chain Reaction
Thrombasthenia / genetics*,  metabolism,  pathology
Chemical
Reg. No./Substance:
0/ITGA2B protein, human; 0/ITGB3 protein, human; 0/Integrin alpha2; 0/Integrin beta3

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