ArticleNeurogenetics2018
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
Article in Neurogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Familial Cerebral Cavernous Malformations : A Clinical Series and Literature Review.Journal of Korean Neurosurgical Society · 2025Article
- Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.Neurogenetics · 2025Article
- Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing.Computational and structural biotechnology journal · 2024Article
- Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.European journal of human genetics : EJHG · 2024Article
- Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants inInternational journal of molecular sciences · 2022Article
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- Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novelFrontiers in molecular biosciences · 2022Article
- Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting theInternational journal of molecular sciences · 2021Article
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations.Scientific reports · 2020Article
- Familial Cerebral Cavernous Malformations.Stroke · 2019Review
- Cerebrovascular disorders associated with genetic lesions.Cellular and molecular life sciences : CMLS · 2019Review
- Novel Pathogenic Variants in a Cassette Exon ofFrontiers in neurology · 2019Article
- Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.Molecular syndromology · 2018Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Familial cerebral cavernous malformations (CCMs) predispose to seizures and hemorrhagic stroke. Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%. However, only whole genome sequencing (WGS) in combination with the Manta algorithm for analyses of structural variants revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial CCMs. Its breakpoints were fine-mapped, and quantitative analysis on RNA confirmed reduced CCM2 expression. Our data expand the spectrum of CCM mutations and indicate that the existence of a fourth CCM disease gene is rather unlikely.
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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.