Related Experiment Video

Updated: Feb 9, 2026

Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
08:30

Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation

Published on: August 14, 2017

11.8K

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing

Ye Jee Shim1, So Yun Park1, Nani Jung1

  • 1Department of Pediatrics, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Republic of Korea.

Pediatric Blood & Cancer
|June 13, 2018
PubMed

Insights

This study identifies compound heterozygous mutations in von Willebrand disease (vWD) within a family. Genetic analysis confirmed distinct vWD type 1 and type 2A variants, guiding patient management.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Von Willebrand disease (vWD) is a common inherited bleeding disorder.
  • Accurate genetic diagnosis is crucial for effective management and genetic counseling.
  • Pediatric coagulopathy necessitates thorough investigation of inherited bleeding disorders.

Observation:

  • A pediatric patient and family members presented with coagulopathy.
  • Laboratory tests revealed von Willebrand disease in all affected family members.
  • Diagnostic exome sequencing was performed for genetic confirmation.

Findings:

  • The patient was diagnosed as a compound heterozygote for vWD.
  • He inherited a known vWD type 1 variant (c.2574C>G) from his father.
  • He inherited a vWD type 2A variant (c.3390C>T) causing exon 26 skipping from his mother.

Implications:

  • Understanding compound heterozygous mutations in vWD is essential for personalized treatment strategies.
  • Management of vWD in pediatric patients requires careful consideration of genetic variants.
  • Successful surgical outcomes can be achieved with appropriate hemostatic management in vWD patients.

Keywords:
exome sequencingnext-generation sequencingvon Willebrand disease

More Related Videos

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-1906:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.3K
Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma08:53

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma

Published on: June 10, 2017

10.5K

Related Concept Videos

Types of RNA01:23

Types of RNA

Overview
Three main types of RNA are involved in protein synthesis: messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). These RNAs perform diverse functions and can be broadly classified as protein-coding or non-coding RNA. Non-coding RNAs play important roles in the regulation of gene expression in response to developmental and environmental changes. Non-coding RNAs in prokaryotes can be manipulated to develop more effective antibacterial drugs for human or animal use.
RNA...
73.0K
Types of Hormones02:13

Types of Hormones

Hormones can be classified into three main types based on their chemical structures: steroids, peptides, and amines. Their actions are mediated by the specific receptors they bind to on target cells.
83.8K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.2K
Types of Selection01:46

Types of Selection

Natural selection influences the frequencies of particular alleles and phenotypes within populations in several different ways. Primarily, natural selection can be directional, stabilizing, or disruptive. Directional selection favors one extreme trait and shifts the population towards that phenotype while selecting against individuals displaying alternate traits. Stabilizing selection favors an intermediate trait with a narrow range of variation. Deviation from the optimal phenotype towards an...
45.2K
Types of Skewness01:09

Types of Skewness

If the frequency distribution of a data set is more inclined towards smaller or larger values, the distribution is said to be skewed. If data values are skewed to the right, then the distribution is called positively skewed. Conversely, if the plot is skewed to the left, the distribution is called negatively skewed.
For instance, in the middle of a pandemic, the geographical distribution of vaccine coverage may be positively skewed towards populations in the global north countries. However,...
18.5K
Types of Damping01:20

Types of Damping

If the amount of damping in a system is gradually increased, the period and frequency start to become affected because damping opposes, and hence slows, the back and forth motion (the net force is smaller in both directions). If there is a very large amount of damping, the system does not even oscillate; instead, it slowly moves toward equilibrium. In brief, an overdamped system moves slowly towards equilibrium, whereas an underdamped system moves quickly to equilibrium but will oscillate about...
7.8K