From blue jeans to blue genes

J Craniofac Surg. 2009 Mar;20 Suppl 1(Suppl 1):703-6. doi: 10.1097/SCS.0b013e318193d7a0.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Animals
  • Disease Models, Animal
  • Germ-Line Mutation
  • Glomus Tumor / genetics*
  • Humans
  • Receptor, TIE-2 / genetics
  • Skin / blood supply
  • Skin Neoplasms / genetics*
  • Vascular Malformations / genetics*
  • Veins / abnormalities

Substances

  • Adaptor Proteins, Signal Transducing
  • GLMN protein, human
  • Receptor, TIE-2