ReviewEuropean journal of human genetics : EJHG2015
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Review in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 53 citations in OpenAlex.
- Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.European journal of human genetics : EJHG · 2019Trial
- Gene variants in periventricular nodular heterotopia.Acta epileptologica · 2026Review
- Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.Archives of gynecology and obstetrics · 2026Article
- Review
- Article
- Differences in whole-brain metabolism are associated with the expression of genes related to neurovascular unit integrity and synaptic plasticity in temporal lobe epilepsy.European journal of nuclear medicine and molecular imaging · 2023Article
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- Terminal 6q27 Microdeletion Syndrome: A Case Report.Cureus · 2022Article
- Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.Global medical genetics · 2022Article
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- Quaking but not parkin is the major tumor suppressor in 6q deleted region in glioblastoma.Frontiers in cell and developmental biology · 2022Article
- The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability & Brain Malformations and the Genotype/Phenotype Relationship: A Case Report.Noro psikiyatri arsivi · 2022Article
- Detection and Visualization of Heterozygosity-Rich Regions and Runs of Homozygosity in Worldwide Sheep Populations.Animals : an open access journal from MDPI · 2021Article
- Identification of Early Diagnostic and Prognostic BiomarkersFrontiers in oncology · 2021Article
- International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nature reviews. Neurology · 2020Review
- A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.Journal of clinical laboratory analysis · 2020Article
- Isolated Chromosome 6q27 Terminal Deletion Syndrome.Cureus · 2020Article
- An Adolescent with a RareCase reports in genetics · 2020Article
- Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.American journal of human genetics · 2019Article
- Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.Molecular syndromology · 2019Article
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Authors and funding
20 authors at 8 institutions in 3 countries.
Funding
Abstract
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.
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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.