EP06.12: Prenatal diagnosis of two fetuses with L1CAM mutations.

The L1 cell adhesion molecule (L1CAM) gene (OMIM 308840), encodes the L1 cell adhesion molecule, is involved in the central nervous system development (ref). Loss of function mutations found in L1CAM may result in L1 syndrome which is associated with brain malformation and developmental delay. The findings in this paper were consistent with L1 syndrome which should be considered while hydrocephalus or agenesis of the corpus callosum was detected by fetal ultrasound during pregnancy. [Extracted from the article]