Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Valerie JacqueminNassim VersbraegenSarah DuerinckxAnnick MassartJulie SobletCamille PerazzoloNicolas DeconinckElise Brischoux-BoucherAnne De LeenerNicole RevencuSandra JanssensStèphanie MoorgatBettina BlaumeiserKristiina AvelaRenaud TouraineImad Abou JaoudeKathelijn KeymolenPascale Saugier-VeberTom LenaertsMarc AbramowiczIsabelle PirsonPublished in: Human genomics (2023)
Our study confirms the low contribution of Mendelian mutations in PCH and reports PCH as a phenotypic presentation of some known genes known for syndromic, postnatal hydrocephalus. Furthermore, this study identifies novel Mendelian candidate genes, and provides evidence for oligogenic inheritance implicating primary cilia in PCH.