J Med Genet 43:465-469 doi:10.1136/jmg.2004.029181
  • Review

What you can learn from one gene: GLI3

  1. L G Biesecker
  1. Correspondence to:
 Dr Leslie Biesecker
 National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892-4472; leslieb{at}
  • Received 13 December 2005
  • Accepted 17 December 2005
  • Revised 13 December 2005


The study of patients with rare multiple congenital anomaly syndromes can provide illuminating insights into normal development and the pathogenesis of congenital anomalies. The GLI3 gene is a particularly good example as it illuminates the phenomena of pleiotropy, phenocopies, syndrome families, and evolutionary conservation of pathogenesis, and raises questions about how diagnoses are conceptualised. These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems.


  • Conflicts of interest: none declared