Open Access

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

  • Authors:
    • Rongyue Wang
    • Hua Chen
    • Xiaona Wang
    • Shiyuan Huang
    • Ailan Xie
    • Xinmei Wu
  • View Affiliations

  • Published online on: October 8, 2021
  • Article Number: 1416
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole‑exome sequencing and in‑depth mutation analysis were performed. The identified variant, c.1267C>T.(p.Q423X), is situated on exon 11 of L1CAM gene (chromosome X:153134975). The fetus was confirmed to be hemizygous for the nonsense mutation and the mother was a heterozygous carrier. The mutation turns a glutamine into a premature stop codon at amino acid position 423. In conclusion, in the present study, a nonsense mutation in the L1CAM gene was identified during the prenatal diagnosis of a congenital hydrocephalic fetus from a Chinese family. The diagnosis highlighted the necessity of genetic screening for prenatal diagnosis.
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