L1CAM mutations in three fetuses diagnosed by medical exome sequencing

Ying-Ting Li, Jing-Si Chen, Wei Jian, Yi-Duo He, Nan Li, Yi-Nong Xie, Jing Wang, Victor Wei Zhang, Wei-Ran Huang, Fu-man Jiang, Xiao-Qing Ye, Dun-Jin Chen (+1 others)
2020 Taiwanese Journal of Obstetrics & Gynecology  
The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion molecule, is involved in the central nervous system development. Its mutations result in L1 syndrome which is associated with brain malformation and nervous developmental delay. We presented three fetuses with hydrocephalus and agenesis of the corpus callosum detected by ultrasound, followed by medical exome sequencing (MES) test with L1CAM mutations: two known missense mutation c.551G > A (p. R184Q) and c.1354G > A (p.
more » ... c.1354G > A (p. G452R), and a novel frameshift mutation c.1322delG which causes the early termination of translation (p. G441Afs∗72). By utilizing multiple computational analysis, all the variants were scored to be likely pathogenic. Combined use of ultrasound and MES to identify the molecular etiology of fetal anomalies may contribute to expanding our knowledge of the clinical phenotype of L1 syndrome observed in the south Chinese population.
doi:10.1016/j.tjog.2020.03.022 pmid:32416898 fatcat:ht6rh2fsufgsnbvoxgf53xrh2m