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

Abstract

To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. 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. Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.