Related Experiment Video
Updated: Jun 25, 2026
Environmentally Induced Heritable Changes in Flax
Published on: January 26, 2011
From blue jeans to blue genes
Laurence M Boon1, Miikka Vikkula
1Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Insights
Researchers discovered mutations in two "blue genes" responsible for most inherited venous anomalies. This breakthrough advances understanding and treatment of these common vascular conditions.
Area of Science:
- Vascular Biology
- Genetics
- Dermatology
Background:
- Cutaneous venous anomalies are prevalent, causing pain, dysfunction, and cosmetic concerns.
- Current treatments like resection and sclerotherapy offer limited curative potential.
- Understanding the genetic basis is crucial for developing novel therapies and animal models.
Purpose of the Study:
- To identify the genetic cause of an inherited form of venous malformation.
- To uncover the specific gene mutations underlying familial venous anomalies.
Main Methods:
- A collaborative research project was initiated to investigate a large New England family with inherited venous malformations.
- Genetic analysis was performed to identify causative gene mutations.
Main Results:
- The study successfully identified mutations in two specific "blue genes".
- These mutations are implicated in the majority of inherited cutaneous venous anomalies.
- Other genes contributing to diverse vascular lesions were also identified.
Conclusions:
- The discovery of "blue genes" marks a new era in understanding and managing vascular anomalies.
- Improved differential diagnosis and management strategies are emerging.
- Development of relevant animal models is now feasible, paving the way for new therapeutic approaches.
Abstract:
Cutaneous venous anomalies are common. They are blue and vary in size, number, and location and account for most consultations at specialized interdisciplinary clinics for vascular anomalies. Venous lesions are clinically important because they cause pain, dysfunction, destruction of adjacent tissues, and esthetic concern. Only resection and sclerotherapy are helpful, although not always curative. Understanding etiopathogenesis could help design animal models and develop novel therapeutic approaches. John B. Mulliken, MD, envisioned a project to uncover the genetic basis of an inherited form of venous malformation in a large New England family. Recruitment of 2 young fellows resulted in a collaborative project that unraveled the searched-for gene and its mutation. This was an opening for a new era in vascular anomalies. Two blue genes' mutations were discovered, which account for most, if not all, of the inherited forms of venous anomalies, but other genes as well, for rheologically diverse lesions. Differential diagnosis and management has improved, and animal models are being made. This was achieved through the help of Dr Mulliken, who inspired 2 young investigators in blue jeans to find 2 blue genes.
Related Concept Videos
01:11Genetic Lingo
02:37Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
02:27Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
02:32Position-effect Variegation
01:25Genetic Variation
Genes exist in different versions called alleles, which...
01:25Inheritance
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...