ArticleAmerican journal of human genetics2000
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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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.
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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
35 citing papers in PubMed, 129 citations in OpenAlex.
- Subcortical band heterotopia in a child with new-onset seizures: A case report.Epilepsy & behavior reports · 2026Article
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Brain Somatic Mutation in Aging and Alzheimer's Disease.Annual review of genomics and human genetics · 2021Review
- Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter.Nature communications · 2020Article
- Frequency and signature of somatic variants in 1461 human brain exomes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Somatic mosaicism and neurodevelopmental disease.Nature neuroscience · 2018Review
- Comprehensive genotype-phenotype correlation in lissencephaly.Quantitative imaging in medicine and surgery · 2018Review
- Retrotransposon-induced mosaicism in the neural genome.Open biology · 2018Review
- Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.Journal of human genetics · 2018Article
- Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.Acta neuropathologica communications · 2017Article
- Article
- One brain, many genomes.Science (New York, N.Y.) · 2016Article
- Genetic Basis of Brain Malformations.Molecular syndromology · 2016Review
- Neuronal migration disorders: Focus on the cytoskeleton and epilepsy.Neurobiology of disease · 2016Review
- A roadmap for precision medicine in the epilepsies.The Lancet. Neurology · 2015Review
- Next-Generation Sequencing in Intellectual Disability.Journal of pediatric genetics · 2015Review
- Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Frontiers in neuroscience · 2015Review
- Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.Cell reports · 2014Article
- The diverse genetic landscape of neurodevelopmental disorders.Annual review of genomics and human genetics · 2014Review
- Somatic mutation, genomic variation, and neurological disease.Science (New York, N.Y.) · 2013Review
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 3 countries.
Funding
Abstract
Mutations in the X-linked gene doublecortin lead to "double cortex" syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic, representing de novo doublecortin mutations, we considered that some of these patients could be somatic or germline mosaics. Among a population of 20 patients and their families, we found evidence for mosaic doublecortin mutations in 6 individuals. Germline mosaicism was identified in two unaffected women, each with two affected children. Additionally, one affected male with DC was found to be a somatic mosaic, which presumably spared him from the more severe phenotype of lissencephaly. The high rate of mosaicism indicates that there may be a significant recurrence risk for DC/XLIS in families at risk, even when the mother is unaffected.
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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.