ArticleMolecular syndromology2010
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Article in Molecular syndromology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 112 citations in OpenAlex.
- SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.Molecular genetics & genomic medicine · 2019Trial
- Glial adherens junction proteins act with SAX-7/L1CAM to promote dendrite extension in C. elegans.Development (Cambridge, England) · 2026Article
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults.Neurology. Genetics · 2025Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.Brain : a journal of neurology · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- Paediatric hydrocephalus.Nature reviews. Disease primers · 2024Review
- Genetic architecture of the structural connectome.Nature communications · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Heterotrimeric G protein signaling without GPCRs: The Gα-binding-and-activating (GBA) motif.The Journal of biological chemistry · 2024Review
- A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.Molecular genetics & genomic medicine · 2023Review
- A neural stem cell paradigm of pediatric hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Human genomics · 2023Article
- Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in theInternational journal of molecular sciences · 2023Article
- Ptpn20 deletion in H-Tx rats enhances phosphorylation of the NKCC1 cotransporter in the choroid plexus: an evidence of genetic risk for hydrocephalus in an experimental study.Fluids and barriers of the CNS · 2022Article
- TRPV4 mRNA is elevated in the caudate nucleus with NPH but not in Alzheimer's disease.Frontiers in genetics · 2022Article
- Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.NPJ genomic medicine · 2021Article
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The etiology of non-syndromic hydrocephalus is poorly understood. Via positional cloning in a consanguineous family with autosomal recessive hydrocephalus we have now identified a homozygous splice site mutation in the CCDC88C gene as a novel cause of a complex hydrocephalic brain malformation. The only living patient showed normal psychomotor development at the age of 3 years and 3 months and her deceased aunt, who was assumed to suffer from the same condition, had mild mental retardation. The mutation in the affected patients, a homozygous substitution in the donor splice site of intron 29, resulted in a shorter transcript due to exclusion of exon 29 and loss of functional protein, as shown by Western blotting (p.S1591HfsX7). In normal human tissue panels, we found CCDC88C ubiquitously expressed, but most prominently in the fetal brain, especially in pons and cerebellum, while expression in the adult brain appeared to be restricted to cortex and medulla oblongata. CCDC88C encodes DAPLE (HkRP2), a Hook-related protein with a binding domain for the central Wnt signalling pathway protein Dishevelled. Targeted quantitative RT-PCR and expression profiling of 84 genes from the Wnt signalling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C indicating transcriptional upregulation. Due to loss of CCDC88C function β-catenin (CTNNB1) and the downstream target LEF1 showed increased mRNA levels in the patient, but many genes from the Wnt pathway and transcriptional target genes showed reduced expression, which might be explained by a complex negative feedback loop. We have thus identified a further essential component of the Wnt signalling pathway in human brain development.
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Registered trials
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