Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.

Abstract

BACKGROUND:

The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants.

METHODS:

Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was extracted, whole-exome sequencing was performed, and the L1CAM gene mutation sites were verified by PCR and Sanger sequencing.

RESULTS:

In this case report, we described the imaging appearance and investigated the mutations of the L1CAM gene in three Chinese families with a history of L1 syndrome; these included two nonsense mutations (c.262C>T and c.261C>G) and one splice-site mutation (c.524-1G>A). Two of these three are novel L1CAM variants: c.262C>T and c.261C>G. The results of the sonographic images of the affected fetuses showed severe hydrocephalus. Bilateral lateral ventricles were dilated in the fetuses with c.262C>T and c.261C>G mutations. The left ventricle was about 14 mm wide and the right was about 14 mm in the fetus with c.262C>T mutation. The left ventricle was about 24.9 mm wide and the right was about 23.9 mm in the fetus with c.261C>G mutation. The ultrasound examination of the fetus with c.524-1G>A mutation showed that the third ventricle (7.5 mm wide) was raised, and the fourth ventricle was communicated with the cisterna magna. The parents requested termination of the above pregnancy.

CONCLUSION:

The current study emphasizes the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing positive for the diagnosis of the L1 syndrome.

• Authors: Shanshan Gao, Xuechao Zhao, Ganye Zhao, Peng Dai, Xiangdong Kong
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 10 Issue 9 Pg. e2002 (09 2022) ISSN: 2324-9269 [Electronic] United States
• PMID: 35791503 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Chemical References

• Codon, Nonsense
• Neural Cell Adhesion Molecule L1

Topics

• China
• Codon, Nonsense
• Female
• Genetic Diseases, X-Linked
• Humans
• Hydrocephalus (diagnostic imaging, genetics)
• Intellectual Disability
• Mutation
• Neural Cell Adhesion Molecule L1 (genetics)
• Pedigree
• Pregnancy
• Spastic Paraplegia, Hereditary