Molecular genetics of central nervous system malformations

Childs Nerv Syst. 2003 Aug;19(7-8):440-3. doi: 10.1007/s00381-003-0785-2. Epub 2003 Jun 19.

Abstract

Introduction: Each of the processes involved in the development of the central nervous system is under genetic control and some mutations are responsible for severe malformations. For example, holoprosencephaly is associated with HPE genes, hydrocephalus with L1-CAM and lissencephaly with LIS-1.

Discussion: Molecular genetics has brought new insights into the etiology and pathogenesis of nervous system malformations and has provided new tools for accurate prenatal diagnosis.

Publication types

  • Comparative Study

MeSH terms

  • Amniocentesis / methods
  • Amniotic Fluid / metabolism
  • Central Nervous System / abnormalities
  • Central Nervous System / metabolism
  • Chorionic Villi / embryology
  • Chorionic Villi / metabolism
  • Cytogenetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fetus / metabolism*
  • Gestational Age
  • Humans
  • Mutation
  • Nervous System Malformations / classification
  • Nervous System Malformations / genetics*
  • Nervous System Malformations / metabolism
  • Pregnancy
  • Prenatal Diagnosis*