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Clinically Relevant Copy Number Variations Detected in Cerebral Palsy

ABSTRACT: Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of etiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (~1% rate in controls). In four children, large chromosomal abnormalities deemed pathogenic were found, and they were significantly more likely to have severe neuro-motor impairments than those CP subjects without such alterations. Overall the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families. Dr. Maryam Oskoui* , Mr. Matthew Gazzellone* , Ms. Bhooma Thiruvahindrapuram , Dr. Mehdi Zarrei , Dr. John Andersen , Dr. John Wei , Dr. Zhouzhi Wang , Dr. Richard Wintle , Dr. Christian Marshall , Dr. Ronald Cohn , Dr. Rosanna Weksberg , Dr. James Stavropoulos , Dr. Darcy Fehlings , Dr. Michael Shevell, Dr. Stephen Scherer. Clinically Relevant Copy Number Variations Detected in Cerebral Palsy. Nature Communications, 2015.

ORGANISM(S): Homo sapiens

PROVIDER: GSE70374 | GEO | 2015/07/28

SECONDARY ACCESSION(S): PRJNA288569

REPOSITORIES: GEO

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Clinically Relevant Copy Number Variations Detected in Cerebral Palsy

Project description:Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age-of-onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of etiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (~1% rate in controls). In four children, large chromosomal abnormalities deemed pathogenic were found, and they were significantly more likely to have severe neuro-motor impairments than those CP subjects without such alterations. Overall the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families. Dr. Maryam Oskoui* , Mr. Matthew Gazzellone* , Ms. Bhooma Thiruvahindrapuram , Dr. Mehdi Zarrei , Dr. John Andersen , Dr. John Wei , Dr. Zhouzhi Wang , Dr. Richard Wintle , Dr. Christian Marshall , Dr. Ronald Cohn , Dr. Rosanna Weksberg , Dr. James Stavropoulos , Dr. Darcy Fehlings , Dr. Michael Shevell, Dr. Stephen Scherer. Clinically Relevant Copy Number Variations Detected in Cerebral Palsy. Nature Communications, 2015. Following our rigorous quality control procedure, we successfully genotyped 147 proband samples from individuals with cerebral palsy (81 males and 66 females) and 282 samples obtained from parents (134 males and 148 females). This facilitated the identification of de novo and rare inherited copy number variations of clinical interest.

2015-07-28 | E-GEOD-70374 | biostudies-arrayexpress

Genome-wide analysis of circular RNAs in cerebral palsy

Project description:Cerebral palsy (CP) is a spectrum of non-progressive motor disorders caused by brain injury during fetal or postnatal periods. Current diagnosis of CP mainly relies on neuroimaging and motor assessment, and we aimed to explore novel biomarkers for CP diagnosis in the present study. Blood plasma from five CP children and their healthy twin brothers/sisters was analyzed by gene microarray to screen out differential expressed circular RNAs (circRNAs).

2021-09-01 | GSE183021 | GEO

Transcription profiling of human wrist muscles from cerebral palsy patients

Project description:Cerebral palsy is caused be an upper motor neuron lesion which casues spasticity as well as secondary effects on muscle . Muscle from cerebral palsy patients is has been shown to be smaller, with more ECM and longer sarcomere lengths; We used microarrays to globally investigate the transcriptional adaptations of cerebral palsy muscle and research which muscle pathways are altered in the diseased state Experiment Overall Design: Muscle biopsies were taken from children undergoing surgery which exposed wrist muscle extensors (n=8) and flexors (n=8) in both cerebral palsy patients (n=6) and control patients (n=2) for RNA extraction and hybridization to Affymetrix GeneChips . Cerebral palsy patients were classified by a number of clinical scores.

2009-09-05 | E-GEOD-11686 | biostudies-arrayexpress

A Dysregulated Proinflammatory Status in Preterm School-aged Children with PVL-induced Spastic Cerebral Palsy

Project description:Injury occurring during critical periods of development may have long-term effects on inflammatory responses. Periventricular leukomalacia (PVL) is the most common cause of cerebral palsy (CP) in preterm infant. Activated leukocytes are the main source of inflammatory cytokines that give rise to white matter damage and CP in preterm infant. Here, we tested the hypothesis that inflammation profiles as pathogenic mediators for the occurrence of PVL in the neonatal period may persist in preterm children with CP at school age. Five preterm children with PVL-induced CP and gestational age-matched five preterm children with normal neurodevelopment were recruited from follow up clinics. Proinflammatory gene expression in the PBMCs from preterm children were determined by Superarray PCR study.

2010-05-22 | E-GEOD-17390 | biostudies-arrayexpress

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Project description:The Affymetrix CytoScan HD array is a high resolution SNP platform for studying copy number variations in the human genome. It is widely being used in both clinical and research settings for identifying causative variants as well as interrogating the genome for benign variants. We employed this platform to investigate the risk factor CNVs in trios diagnosed with hemiplegic cerebral palsy. We genotyped 101 unrelated probands and their both parents and compared their genotypes to those of 9,611 population controls, in order to identify rare CNVs (<0.1% frequency) of at least 10 kb in size that might contribute to CP. We uncovered de novo CNVs and Decipher Syndromes in probands. We have identified additional potentially risk factor CNVs impacting the coding sequencing of genes involved in brain functions.

2017-11-23 | GSE80813 | GEO

Comprehensive Whole-Genome Sequence Annotation to Resolve the Genetic Architecture of Cerebral Palsy

Project description:Cerebral palsy (CP) is a permanent, non-progressive brain injury leading to movement and posture disorders. It can involve comorbidities, including other neurodevelopmental disorders (NDD). Genomic studies, focused mainly on the role of copy number variations (CNVs) identified using whole genome microarrays, and rare single nucleotide variants (SNVs) and insertions/deletions (indels) from exome sequencing, have shown that genomic changes have increasingly been found to play a role in etiology of CP and other NDDs. We applied Whole Genome Sequencing (WGS) to uncover a more complete landscape of genetic variations in both nuclear and mitochondrial DNA (CNVs, structural variations (SVs), SNVs, indels, tandem repeat (TR) variations, and mitochondrial DNA (mtDNA) variations) on a representative sample of individuals with CP recruited from CP-NET (Ontario) and the Canadian CP Registry. The cohort included 308 complete trio and four quartet families.

| EGAS00001006724 | EGA

A Dysregulated Proinflammatory Status in Preterm School-aged Children with PVL-induced Spastic Cerebral Palsy

2009-09-30 | GSE17390 | GEO

Unique Transcriptional Profile in Wrist Muscles From Cerebral Palsy Patients

2009-08-26 | GSE11686 | GEO

4a623a1f-fde2-45ee-82dd-11cd46089eba - samples

Project description:WGS Cram files from the Childhood Cerebral Palsy Integrated Neuroscience Discovery Network "CP-NET" - Clinical Database Platforms - Phase 3 project.

| EGAD00001010014 | EGA

Extracellular vesicle characteristics and microRNA content in cerebral palsy and typically developed individuals at rest and in response to aerobic exercise [EV]

Project description:In this study, the properties of circulating EVs were examined in cerebral palsy (CP) and typically developed (TD) individuals at rest and after aerobic exercise. We performed smallRNA-seq anf focused on the microRNA cargo of EVs

2022-12-10 | GSE218103 | GEO

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