GLI2 mutations as a cause of hypopituitarism

Pediatr Endocrinol Rev. 2012 Aug;9(4):706-9.


The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

Publication types

  • Review

MeSH terms

  • Hedgehog Proteins / metabolism
  • Humans
  • Hypopituitarism / genetics*
  • Hypopituitarism / metabolism*
  • Kruppel-Like Transcription Factors / genetics*
  • Kruppel-Like Transcription Factors / metabolism*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism*
  • Signal Transduction / physiology*
  • Zinc Finger Protein Gli2


  • GLI2 protein, human
  • Hedgehog Proteins
  • Kruppel-Like Transcription Factors
  • Nuclear Proteins
  • SHH protein, human
  • Zinc Finger Protein Gli2