[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):897-900. doi: 10.3760/cma.j.issn.1003-9406.2019.09.011.
[Article in Chinese]

Abstract

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.

Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.

Results: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.

Conclusion: Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Fetus
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics*
  • Male
  • Mutation
  • Neural Cell Adhesion Molecule L1 / genetics*
  • Pedigree
  • Pregnancy

Substances

  • L1CAM protein, human
  • Neural Cell Adhesion Molecule L1