Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Article Swipe
Robin A. Pilz
,
Matthias Begemann
,
SM Pfister
,
Paranchai Boonsawat
,
Anita Rauch
,
Ingo Kurth
,
Ute Felbor
,
Matthias Rath
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s10048-025-00847-2
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s10048-025-00847-2
The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains challenging. Short-read whole genome sequencing was performed for a patient with strong clinical evidence of FCCM but negative results from previous genetic tests. The analysis revealed a large insertion of an intronic KRIT1 fragment into a coding exon of KRIT1 . This novel structural variant results in a frameshift and was classified as pathogenic. Predictive testing can now be offered to asymptomatic family members. This case expands the known mutation spectrum in FCCM and suggests that, after negative whole exome or gene panel sequencing, whole genome sequencing should be offered as a second-line diagnostic test.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s10048-025-00847-2
- https://link.springer.com/content/pdf/10.1007/s10048-025-00847-2.pdf
- OA Status
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- References
- 12
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
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https://openalex.org/W4413770965Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1007/s10048-025-00847-2Digital Object Identifier
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Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneWork title
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articleOpenAlex work type
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enPrimary language
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2025Year of publication
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2025-08-28Full publication date if available
- Authors
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Robin A. Pilz, Matthias Begemann, SM Pfister, Paranchai Boonsawat, Anita Rauch, Ingo Kurth, Ute Felbor, Matthias RathList of authors in order
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https://doi.org/10.1007/s10048-025-00847-2Publisher landing page
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https://link.springer.com/content/pdf/10.1007/s10048-025-00847-2.pdfDirect link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://link.springer.com/content/pdf/10.1007/s10048-025-00847-2.pdfDirect OA link when available
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Human genetics, Germline, Genetics, Gene, Molecular medicine, Biology, Medicine, Bioinformatics, Cell cycleTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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12Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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