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Title: Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Austin Authors: Wallis, Mathew J ;Baumer, Alessandra;Smaili, Wiam;Jaouad, Imane Cherkaoui;Sefiani, Abdelaziz;Jacobson, Erica;Bowyer, Lucy;Mowat, David;Rauch, Anita
Affiliation: Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia
Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco
Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco
School of Women's and Children's Health, University of New South Wales, Australia
Department of Maternal-Fetal Medicine, Royal Women's Hospital, Randwick, New South Wales, Australia
Clinical Genetics Service, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatric Neurosurgery, Sydney Children's Hospital, Randwick, New South Wales, Australia
Institute of Medical Genetics, University of Zurich, Australia
Issue Date: Apr-2018 2017-12-07
Publication information: European journal of medical genetics 2018; 61(4): 189-196
Abstract: Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention. It is for this reason that couples with an antenatal diagnosis of severe hydrocephalus are given the option, and may opt, for termination of the pregnancy. We present two families with CCDC88C-related recessive congenital hydrocephalus with children who had severe hydrocephalus. Those individuals who were shunted within the first few weeks of life, who did not require multiple surgical revisions, and who had a more distal truncating variant of the CCDC88C gene met their early childhood developmental milestones in some cases. This suggests that children with CCDC88C-related autosomal recessive hydrocephalus can have normal developmental outcomes under certain circumstances. We recommend CCDC88C analysis in cases of severe non-syndromic congenital hydrocephalus, especially when aqueduct stenosis with or without a medial diverticulum is seen, in order to aid prognosis discussion.
DOI: 10.1016/j.ejmg.2017.12.002
Journal: European journal of medical genetics
PubMed URL: 29225145
Type: Journal Article
Subjects: Autosomal recessive
Brain malformation
Congenital hydrocephalus
Genetic counselling
Molecular genetics
Reproductive medicine
Appears in Collections:Journal articles

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