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L1 syndrome, a complex X-linked neurological disorder, is caused by mutations in the L1 cell adhesion molecule ( L1CAM ) gene.  L1CAM  molecule is a member of immunoglobulin (Ig) superfamily of neural cell adhesion molecules (CAMs), which plays a pivotal role in the developing nervous system. In this study, a  L1CAM  gene exonic missense variant (c.1108G &gt; A, p.G370R) was identified in two induced fetuses (abnormal fetuses), who presented corpus callosum agenesis accompanied with hydrocephalus. Clinical data, published literature, online database, and bioinformatic analysis suggest that the single-nucleotide variant of  L1CAM  gene is a likely pathogenic mutation. In vitro assays were performed to evaluate the effects of this variant. Based on NSC-34/COS-7 cells transfected with wild-type (L1-WT) and mutated (L1-G370R) plasmids, the  L1CAM  gene exonic missense variant (c.1108G &gt; A, p.G370R) reduced cell surface expression, induced partial endoplasmic reticulum retention, affected posttranslational modification, and reduced protein’s homophilic adhesive ability, but did not induce endoplasmic reticulum stress, which might probably associate with L1 syndrome. Finally, 35 isolated fetuses were screened for  L1CAM  gene variants by Sanger sequencing. These cases all prenatally suspected of corpus callosum agenesis accompanied with hydrocephalus, which may relate to L1 syndrome. Consequently, one  L1CAM  gene single missense variant (c.550C &gt; T, p.R184W) was detected in one fetus. Our results provided evidence that the  L1CAM  gene missense variant (c.1108G &gt; A, p.G370R) may relate to L1 syndrome. The findings of this study suggest a potential possibility of  L1CAM  gene screening for prenatal diagnoses for fetuses presented corpus callosum agenesis accompanied with hydrocephalus.

L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant