The MPDZ gene, located on chromosome 9p24-p22, was first involved in severe non-syndromic congenital hydrocephalus by the characterization of a homozygous nonsense variant in exon 6 in two Saudi consanguineous families, c.628C > T; p.(Gln210*), suggesting a founder effect [2]. Here, MPDZ is linked to congenital hydrocephalus.