ReviewHuman mutation2018
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Review in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 58 citations in OpenAlex.
- Mapping corpus callosum architecture: developmental, genetic, and cognitive correlates in youth.bioRxiv : the preprint server for biology · 2026Article
- Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.Frontiers in genetics · 2026Article
- Pan-cancer analysis reveals netrin-1 receptors as potential tumor biomarkers and immune-related therapeutic targets.Scientific reports · 2025Article
- DCC in the cerebral cortex is required for cognitive functions in mouse.Brain pathology (Zurich, Switzerland) · 2025Article
- 20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.Neurogenetics · 2025Review
- Glial interactions in the formation and plasticity of the corpus callosum.Frontiers in cellular neuroscience · 2025Review
- A genome-wide association study of the racing performance traits in Yili horses based on Blink and FarmCPU models.Scientific reports · 2024Article
- Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.Annals of clinical and translational neurology · 2024Article
- Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review.Journal of pediatric genetics · 2024Article
- NeuroLab 2.0: An Alternative Storyline Design Approach for Translating a Research-Based Summer Experience into an Advanced STEM+M Curriculum Unit that Supports Three-Dimensional Teaching and Learning in the Classroom.Journal of STEM outreach · 2024Article
- Loss-of-function variants inJournal of medical genetics · 2024Article
- Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.Journal of clinical medicine · 2024Article
- Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.Science advances · 2023Article
- Teaching NeuroImage:Neurology · 2023Article
- Arc protein, a remnant of ancient retrovirus, forms virus-like particles, which are abundantly generated by neurons during epileptic seizures, and affects epileptic susceptibility in rodent models.Frontiers in neurology · 2023Review
- Regulation of axon pathfinding by astroglia across genetic model organisms.Frontiers in cellular neuroscience · 2023Review
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.eLife · 2021Article
- Article
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Neurogenetics · 2021Article
Corrections and comments
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Authors and funding
25 authors at 11 institutions in 5 countries.
Funding
Abstract
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).
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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.