Enhanced Repression by HESX1 as a Cause of Hypopituitarism and Septooptic Dysplasia

Ronald N. Cohen, Laurie E. Cohen, Diego Botero, Christine Yu, Angela Sagar, Magdalena Jurkiewicz, Sally Radovick

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


HESX1 is a paired-like homeodomain transcription factor that functions as a represser of PROP1-mediated gene stimulation. Mutations in HESX1 have been implicated in cases of septooptic dysplasia and congenital hypopituitarism. All mutations in HESX1 identified to date have resulted in impaired DNA binding and defective HESX1 action. We have identified a novel HESX1 mutation in genomic nucleotide position 1684 (g.1684delG), which results in a mutant protein with increased DNA binding. In turn, this mutation causes increased repression of PROP1-dependent gene activity. These data suggest that enhancement of transcriptional repression during pituitary organogenesis is a novel mechanism for the development of congenital pituitary disorders.

Original languageEnglish (US)
Pages (from-to)4832-4839
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Issue number10
StatePublished - Oct 2003
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism


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