ArticleNature genetics2017
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Investigating regions of shared genetic variation in attention deficit/hyperactivity disorder and major depressive disorder: a GWAS meta-analysis.Scientific reports · 2021Pooled it
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- Mapping corpus callosum architecture: developmental, genetic, and cognitive correlates in youth.bioRxiv : the preprint server for biology · 2026Article
- Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy.Frontiers in pediatrics · 2026Article
- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- Article
- 20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.Neurogenetics · 2025Review
- Mild Gestational Hypothyroidism in Mice Has Transient Developmental Effects and Long-Term Consequences on Neuroendocrine Systems.Thyroid : official journal of the American Thyroid Association · 2025Article
- A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC.Science signaling · 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
- Report of a Novel Homozygous IntragenicMolecular syndromology · 2024Article
- Novel variants and phenotypes ofPediatric investigation · 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
- mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.Neurology. Genetics · 2023Article
- Systematic analysis of the Frazzled receptor interactome establishes previously unreported regulators of axon guidance.Development (Cambridge, England) · 2023Article
- Neuronal guidance genes in health and diseases.Protein & cell · 2023Review
- Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.Brain : a journal of neurology · 2023Article
- Examining the shared etiology of psychopathology with genome-wide association studies.Physiological reviews · 2023Review
- Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.American journal of human genetics · 2023Article
Corrections and comments
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Authors and funding
26 authors at 9 institutions in 3 countries.
Funding
Abstract
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white-matter tracts throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human CNS.
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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.