Bibliographic Details
| Title: |
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance |
| Authors: |
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) |
| Publisher Information: |
BMC, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Medicine
LCC:Genetics |
| Subject Terms: |
Congenital hydrocephalus, Oligogenic inheritance, Exome sequencing, Mutation burden test, Cilia, Medicine, Genetics, QH426-470 |
| More Details: |
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 |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1479-7364 |
| Relation: |
https://doaj.org/toc/1479-7364 |
| DOI: |
10.1186/s40246-023-00464-w |
| Access URL: |
https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a |
| Accession Number: |
edsdoj.44a6fec88d5c445daba53c4728eddc7a |
| Database: |
Directory of Open Access Journals |
