ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.Frontiers in neurologyPooled it
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Review
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.American journal of medical genetics. Part A · 2024Article
- Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.Nature medicine · 2024Article
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- Accumulation of gene copy number variations during the early phase of free-spawning abalone speciation.Ecology and evolution · 2023Article
- Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study.Developmental neuroscience · 2023Article
- De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.Human genomics · 2022Article
- LINE-1 activation in the cerebellum drives ataxia.Neuron · 2022Article
- In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.Brain : a journal of neurology · 2022Article
- A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.Molecular genetics & genomic medicine · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- How Epigenetics Can Enhance Pig Welfare?Animals : an open access journal from MDPI · 2021Review
- Genetic testing in individuals with cerebral palsy.Developmental medicine and child neurology · 2021Article
- An Emerging Role for Epigenetics in Cerebral Palsy.Journal of personalized medicine · 2021Review
- Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.NPJ genomic medicine · 2021Article
- Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy.Neurosurgery · 2021Article
- Resistance to Neuromuscular Blockade by Rocuronium in Surgical Patients with Spastic Cerebral Palsy.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.
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