ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2021
Genomics of human congenital hydrocephalus.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Enhancing spinal cord injury repair through PTCH1-mediated neural progenitor cell differentiation induced by ion elemental-optimized layered double hydroxides.Materials today. Bio · 2025Article
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.Nature neuroscience · 2025Article
- Research status of fetal hydrocephalus from 2003 to 2022 based on bibliometric analysis.Ibrain · 2025Review
- Current Diagnostic, Counseling, and Treatment Options in Non-Severe and Severe Apparently Isolated Fetal Ventriculomegaly.Biomedicines · 2024Review
- TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.Brain : a journal of neurology · 2024Article
- Short- and Long-Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI.Prenatal diagnosis · 2024Article
- Isolated Fetal Ventriculomegaly: Diagnosis and Treatment in the Prenatal Period.Children (Basel, Switzerland) · 2024Review
- A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.Brain : a journal of neurology · 2024Article
- The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Genetic and molecular mechanisms of hydrocephalus.Frontiers in molecular neuroscience · 2024Review
- Novel dominant-negativeTranslational pediatrics · 2023Article
- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- A Paternal Methylation Error in the Congenital Hydrocephalic Texas (H-Tx) Rat Is Partially Rescued with Natural Folate Supplements.International journal of molecular sciences · 2023Article
- Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of pathological cerebrospinal fluid (CSF) accumulation and, therefore, treated largely by neurosurgical CSF diversion. The persistence of ventriculomegaly and poor neurodevelopmental outcomes in some post-surgical patients highlights our limited knowledge of disease mechanisms. Recent whole-exome sequencing (WES) studies have shown that rare, damaging de novo and inherited mutations with large effect contribute to ~ 25% of sporadic CH. Interestingly, multiple CH genes are key regulators of neural stem cell growth and differentiation and converge in human transcriptional networks and cell types pertinent to fetal neurogliogenesis. These data implicate genetic disruption of early brain development as the primary pathomechanism in a substantial minority of patients with sporadic CH, shedding new light on human brain development and the pathogenesis of hydrocephalus. These data further suggest WES as a clinical tool with potential to re-classify CH according to a molecular nomenclature of increased precision and utility for genetic counseling, outcome prognostication, and treatment stratification.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.