L1CAM mutations in three fetuses diagnosed by medical exome sequencing
| Autor: | Yingting Li, Xiaoqing Ye, Jing-Si Chen, Wei-Ran Huang, Fu-man Jiang, Yinong Xie, Victor Wei Zhang, Wei Jian, Nan Li, Jing Wang, Dunjin Chen, Yi-Duo He, Min Chen |
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| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty 030219 obstetrics & reproductive medicine L1 business.industry Obstetrics and Gynecology medicine.disease Hydrocephalus Frameshift mutation 03 medical and health sciences 0302 clinical medicine medicine Missense mutation business L1 syndrome Agenesis of the corpus callosum Gene Exome sequencing |
| Zdroj: | Taiwanese Journal of Obstetrics and Gynecology. 59:451-455 |
| ISSN: | 1028-4559 |
| DOI: | 10.1016/j.tjog.2020.03.022 |
| Popis: | Objective 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. Case report 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. 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. Conclusion 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. |
| Databáze: | OpenAIRE |
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