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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.011 | DOI Listing |
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