Abstract:

A family with a case of two times of fetal hydrocephalus pregnancies was reported. The genetic etiology was analyzed by single nucleotide polymorphism array (SNP array) and whole-exome sequencing (WES). No pathogenic and likely pathogenic copy number variants were found from SNP array. The fetal was found to harbor a likely pathogenic c.287A>G mutation in exon 2 of POMT2 gene from the father and a pathogenic c.1362G>A mutation in exon 13 of POMT2 gene from the mother. The fetal carried the compound heterozygous mutations of POMT2 gene and so was diagnosed with Walker-Warburg syndrome (WWS). For a family with recurrent fetal hydrocephalus while excluding pathogenic and likely pathogenic copy number variants of fetal chromosome, WES is available with a view to identify the genetic etiology and to provid genetic data for reproduction.

Key words: Fetus, Hydrocephalus, Walker-Warburg syndrome, POMT2 gene, Prenatal diagnosis