Table 13 WNT signaling
From: The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Citation | Title | Author affiliation | Case # | Ancestry | Study design | CNS phenotype | Non-CNS phenotype | Type of hydrocephalus | Genetic methodology | Genetic analysis | Inheritance | Genetic finding |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Doherty et al., 2010 [96] | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) | University of Washington, Seattle Children's Hospital, USA | 26 Subjects, 210 Controls | USA, European, Asian, African, Native American, Italy, the Netherlands, Germany, UK, and Turkey | Case series | Intellectual impairment, hypotonia, ataxia, cerebellar vermis hypoplasia, encephalocele | Congestive heart failure, hepatic fibrosis, coloboma, retinal disease, renal disease, polydactyly | Communicating | Genotyping, TGS | Microsatellite marker assay, SNP | AR | 4p15.32 (CC2D2A) |
Drielsma et al., 2012 [364] | Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus | Institute of Interdisciplinary Research – IRIBHM, Université Libre de Bruxelles, Brussels, Belgium | 8 Subjects, 4 Parents, 721 Controls | Jewish Ashkenazi, Palestinian, | Case series | Seizures, parietal polymicrogyria | Hypertelorism, lung lymphangiectasias | Communicating | Cytogenetics, genotyping, TGS | Karyotyping, MLPA, homozygosity mapping, sanger sequencing | AR | 14q32.11-q32.12 (CCDC88C) |
Ekici et al., 2010 [98] | Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum | University of Regensburg, Regensburg, Germany | 58 subjects, 224 controls | Algeria | Case series | Mild psychomotor delay | - | - | Genotyping, TGS | Linkage analysis, homozygosity mapping, cycle sequencing | AR | 14q32.11-q32.12 (CCDC88C) |
Ruggeri et al., 2018 [365] | Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus | Seattle Children's Research Institute, Seattle, Washington | 2 Subjects | - | Case series | Intellectual delay and infantile onset seizures | Varying degrees of motor delay | - | WES | Variant analysis, trio-based exome sequencing, sanger sequencing | AR | 14q32.11-q32.12 (CCDC88C) |
Wallis et al., 2018 [366] | Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency | Austin Health, Heidelberg, Victoria, Australia | 5 Subjects | Moroccan, Saudi | Case series | Isolated hydrocephalus | Developmental delay | Obstructive | TGS | Massively parallel sequencing | AR | 14q32.11-q32.12 (CCDC88C) |