ArticlePloS one2014
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.
Article in PloS one, 2014. 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, 89 citations in OpenAlex.
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- 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation.Molecular cytogenetics · 2023Article
- Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology.Scientific reports · 2023Article
- Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community.Communications biology · 2023Article
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- Mild Traumatic Brain Injury-Induced Disruption of the Blood-Brain Barrier Triggers an Atypical Neuronal Response.Frontiers in cellular neuroscience · 2022Article
- Mitochondrial dysfunction-induced H3K27 hyperacetylation perturbs enhancers in Parkinson's disease.JCI insight · 2021Article
- X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.Skeletal muscle · 2020Article
- Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.Frontiers in genetics · 2019Article
- RBFOX3/NeuN is dispensable for visual function.PloS one · 2018Article
- Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy.Frontiers in neurology · 2018Article
- Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.Molecular medicine reports · 2017Review
- Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment.Environmental health : a global access science source · 2017Article
- Copy number variation in a hospital-based cohort of children with epilepsy.Epilepsia open · 2017Article
- Article
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nature genetics · 2017Article
- Genetic variants in RBFOX3 are associated with sleep latency.European journal of human genetics : EJHG · 2016Article
- Novel Insights into NeuN: from Neuronal Marker to Splicing Regulator.Molecular neurobiology · 2016Review
Corrections and comments
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Authors and funding
30 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7-11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. We characterized structural variants (SVs) specific to each individual, including those matching the chromosomal breakpoints. Refinement of these regions by Sanger sequencing resulted in the identification of five disrupted genes in three individuals: guanine nucleotide binding protein, q polypeptide (GNAQ), RNA-binding protein, fox-1 homolog (RBFOX3), unc-5 homolog D (C.elegans) (UNC5D), transmembrane protein 47 (TMEM47), and X-linked inhibitor of apoptosis (XIAP). Among them, XIAP is the causative gene for the immunodeficiency phenotype seen in the patient. The remaining genes displayed specific expression in the fetal brain and have known biologically relevant functions in brain development, suggesting putative candidate genes for neurodevelopmental phenotypes. This study demonstrates the application of NGS technologies in mapping individual gene disruptions in ABCR as a resource for deciphering candidate genes in human neurodevelopmental disorders (NDDs).
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