ArticleAmerican journal of medical genetics. Part A2018
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 42 citations in OpenAlex.
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- The circadian clock in the choroid plexus drives rhythms in multiple cellular processes under the control of the suprachiasmatic nucleus.Fluids and barriers of the CNS · 2024Article
- 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
- Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in theInternational journal of molecular sciences · 2023Article
- 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
- Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.Acta neuropathologica communications · 2021Article
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus.JCI insight · 2020Article
- Dendrites with specialized glial attachments develop by retrograde extension using SAX-7 and GRDN-1.Development (Cambridge, England) · 2020Article
- DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.Molecular biology of the cell · 2019Article
- GPCR-independent activation of G proteins promotes apical cell constriction in vivo.The Journal of cell biology · 2019Article
- MurineEMBO molecular medicine · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing. Our two newly described children, as well as the previously published ones, all shared several features including severe infantile-onset hydrocephalus, mild to severe intellectual delay, varying degrees of motor delay, and infantile onset seizures. All identified homozygous mutations in CCDC88C abolish the PDZ binding site necessary for proper CCDC88C protein function in the Wnt signaling pathway. Our report further establishes CCDC88C as one of the few known recessive causes of severe prenatal-onset hydrocephalus. Recognition of this syndrome has important diagnostic and genetic implications for families identified in the future.
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