Abstract: Objective：To explore the application of next-generation sequencing in the gene diagnosis of congenital hydrocephalus. Methods：We collected a congenital hydrocephalus family, and designed the candidate gene panel according to the clinical characteristics and inheritance pattern. The next-generation sequencing was used to detect gene mutation. Results：L1CAM gene Exon6 mutation c.551G＞A(p.Arg184Gln) was detected in the proband. The proband′ mother and two aunts were c.551G＞A mutation carriers. Conclusions：For congenital hydrocephalus, the main strategy of genetic diagnosis is to screen the suspicious genes according to the clinical phenotype and genetic rules, and to design the gene panel for the next-generation sequencing. This strategy can quickly detect the genetic cause and improve the diagnostic efficiency. Prenatal diagnosis and effective genetic counseling may be provided for these families.

Key words: Hydrocephalus, Genes, Mutation, Genetic diseases, X-linked, Prenatal diagnosis, Congenital hydrocephalus , Next generation sequencing