학술논문
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
Document Type
article
Author
Valerie Jacquemin; Nassim Versbraegen; Sarah Duerinckx; Annick Massart; Julie Soblet; Camille Perazzolo; Nicolas Deconinck; Elise Brischoux-Boucher; Anne De Leener; Nicole Revencu; Sandra Janssens; Stèphanie Moorgat; Bettina Blaumeiser; Kristiina Avela; Renaud Touraine; Imad Abou Jaoude; Kathelijn Keymolen; Pascale Saugier-Veber; Tom Lenaerts; Marc Abramowicz; Isabelle Pirson
Source
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Subject
Language
English
ISSN
1479-7364
Abstract
Abstract Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset of cases with prenatal onset and absence of another primary cause, e.g., brain hemorrhage. Published series report a Mendelian cause in only a minority of cases. In this study, we analyzed exome data of PCH patients in search of novel causal genes and addressed the possibility of an underlying oligogenic mode of inheritance for PCH. Materials and methods We sequenced the exome in 28 unrelated probands with PCH, 12 of whom from families with at least two affected siblings and 9 of whom consanguineous, thereby increasing the contribution of genetic causes. Patient exome data were first analyzed for rare (MAF