Molecular genetics of central nervous system malformations.

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.