Teratogenesis of holoprosencephaly

Am J Med Genet. 2002 Apr 15;109(1):1-15. doi: 10.1002/ajmg.10258.

Abstract

Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutated genes and teratogens involving the sonic hedgehog signaling network and cholesterol biosynthesis; and 5) cholesterol trafficking, sterol adducts, target tissue response, and sterol sensing domain.

Publication types

  • Review

MeSH terms

  • Abnormalities, Drug-Induced / etiology*
  • Animals
  • Cholesterol / biosynthesis
  • Female
  • Hedgehog Proteins
  • Holoprosencephaly / etiology*
  • Holoprosencephaly / genetics
  • Holoprosencephaly / metabolism
  • Humans
  • Maternal Exposure / adverse effects
  • Mutation
  • Pregnancy
  • Pregnancy in Diabetics / complications
  • Signal Transduction
  • Teratogens / pharmacology
  • Teratogens / toxicity
  • Trans-Activators / genetics
  • Trans-Activators / physiology

Substances

  • Hedgehog Proteins
  • SHH protein, human
  • Teratogens
  • Trans-Activators
  • Cholesterol