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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

During early mouse development the homeobox gene Hesx1 is expressed in prospective forebrain tissue, but later becomes restricted to Rathke's pouch, the primordium of the anterior pituitary gland. Mice lacking Hesx1 exhibit variable anterior CNS defects and pituitary dysplasia. Mutants have a reduced prosencephalon, anopthalmia or micropthalmia, defective olfactory development and bifurcations in Rathke's pouch. Neonates exhibit abnormalities in the corpus callosum, the anterior and hippocampal commissures, and the septum pellucidum. A comparable and equally variable phenotype in humans is septo-optic dysplasia (SOD). We have cloned human HESX1 and screened for mutations in affected individuals. Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain which destroyed its ability to bind target DNA. These data suggest an important role for Hesx1/HESX1 in forebrain, midline and pituitary development in mouse and human.

Pubmed ID: 9620767


  • Dattani MT
  • Martinez-Barbera JP
  • Thomas PQ
  • Brickman JM
  • Gupta R
  • MÃ¥rtensson IL
  • Toresson H
  • Fox M
  • Wales JK
  • Hindmarsh PC
  • Krauss S
  • Beddington RS
  • Robinson IC


Nature genetics

Publication Data

June 1, 1998

Associated Grants


Mesh Terms

  • Abnormalities, Multiple
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors
  • DNA
  • Embryonic and Fetal Development
  • Female
  • Genotype
  • Helix-Loop-Helix Motifs
  • Homeodomain Proteins
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation
  • Open Reading Frames
  • Optic Nerve
  • Pedigree
  • Pituitary Gland
  • Repressor Proteins
  • Septum Pellucidum