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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
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[Rare VPS33B gene mutation combined with GP1BA mutation causes severe decrease in plasma VWF levels: a case report

S Q Ma1, X Bai2, L J Cao2

  • 1Department of hematology, Dushu Lake Hospital Affiliated to Soochow University, Suzhou 215028, China.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|August 12, 2024
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Summary
This summary is machine-generated.

A rare genetic condition caused by double gene variations led to severely low von Willebrand factor (VWF) levels in a pregnant woman. This finding highlights new genetic causes for bleeding disorders.

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Area of Science:

  • Genetics
  • Hematology
  • Reproductive Medicine

Background:

  • Severe deficiency of coagulation factor Ⅷ activity (FⅧ∶C) and von Willebrand factor antigen (VWF∶Ag) (<1%) was identified in a pregnant woman.
  • Initial genetic testing of the VWF gene exons did not reveal pathogenic variations, and the clinical presentation was atypical for type Ⅲ hemophilia (von Willebrand disease).

Purpose of the Study:

  • To investigate the genetic basis of severe VWF deficiency in a pregnant woman and her family.
  • To identify novel genetic variations contributing to bleeding disorders.

Main Methods:

  • Whole-genome sequencing was performed on the patient and her family members using third-generation sequencing technology.
  • Analysis of genetic variations in VPS33B and GP1BA genes.
  • Correlation of identified variants with VWF levels and clinical phenotypes.

Main Results:

  • Heterozygous variants in VPS33B (c.869G>C) were identified in multiple paternal family members, associated with reduced VWF levels (39%-56%).
  • The proband also carried a heterozygous variant in GP1BA (c.1474dupA), classified as associated with platelet-type pseudo VWD.
  • This is the first international report of decreased VWF levels due to heterozygous VPS33B variations and the first reported case of severe VWF reduction from double heterozygous variations in VPS33B and GP1BA.

Conclusions:

  • Double heterozygous variations in VPS33B and GP1BA can lead to a severe decrease in plasma VWF levels.
  • VPS33B variants represent a newly identified genetic cause for reduced VWF levels.
  • Genetic investigation beyond VWF gene exons is crucial for diagnosing complex bleeding disorders.