ArticleAmerican journal of human genetics2012
RAD51 haploinsufficiency causes congenital mirror movements in humans.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 82 citations in OpenAlex.
- EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Corticospinal Tract Development, Evolution, and Skilled Movements.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- RAD51 plays critical roles in DNMT1-mediated maintenance methylation of genomic DNA by dually regulating the ubiquitin ligase UHRF1.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing.Biological psychiatry · 2024Article
- Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.Science advances · 2023Article
- Neuronal guidance genes in health and diseases.Protein & cell · 2023Review
- Noncanonical Roles of RAD51.Cells · 2023Review
- Article
- RAD51 is essential for spermatogenesis and male fertility in mice.Cell death discovery · 2022Article
- Alternative Functions of Cell Cycle-Related and DNA Repair Proteins in Post-mitotic Neurons.Frontiers in cell and developmental biology · 2021Article
- Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function.BioMed research international · 2021Article
- Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.Blood advances · 2020Article
- Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.Cancer research and treatment · 2020Article
- De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.American journal of human genetics · 2019Article
- DNA damage tolerance in stem cells, ageing, mutagenesis, disease and cancer therapy.Nucleic acids research · 2019Review
- Glu-108 in Saccharomyces cerevisiae Rad51 Is Critical for DNA Damage-Induced Nuclear Function.mSphere · 2019Article
- Neural function in DCC mutation carriers with and without mirror movements.Annals of neurology · 2019Article
- Abnormal Pyramidal Decussation and Bilateral Projection of the Corticospinal Tract Axons in Mice Lacking the Heparan Sulfate Endosulfatases, Sulf1 and Sulf2.Frontiers in molecular neuroscience · 2019Article
- Congenital mirror movement associated with migraine: A case report.Northern clinics of Istanbul · 2019Article
- Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.Diagnostic and interventional radiology (Ankara, Turkey) · 2018Article
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital mirror movements (CMM) are characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side. CMM reflect dysfunctions and structural abnormalities of the motor network and are mainly inherited in an autosomal-dominant fashion. Recently, heterozygous mutations in DCC, the gene encoding the receptor for netrin 1 and involved in the guidance of developing axons toward the midline, have been identified but CMM are genetically heterogeneous. By combining genome-wide linkage analysis and exome sequencing, we identified heterozygous mutations introducing premature termination codons in RAD51 in two families with CMM. RAD51 mRNA was significantly downregulated in individuals with CMM resulting from the degradation of the mutated mRNA by nonsense-mediated decay. RAD51 was specifically present in the developing mouse cortex and, more particularly, in a subpopulation of corticospinal axons at the pyramidal decussation. The identification of mutations in RAD51, known for its key role in the repair of DNA double-strand breaks through homologous recombination, in individuals with CMM reveals a totally unexpected role of RAD51 in neurodevelopment. These findings open a new field of investigation for researchers attempting to unravel the molecular pathways underlying bimanual motor control in humans.
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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.