Evidence map›Paper›PMID 40874960›Full record

ArticleNeurogenetics2025

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Robin A Pilz, Matthias Begemann, Surema Pfister, Paranchai Boonsawat, Anita Rauch, Ingo Kurth, Ute Felbor, Matthias Rath

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Robin A PilzDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany. RobinAlexander.Pilz@med.uni-greifswald.de.
Matthias BegemannCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Surema PfisterInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Paranchai BoonsawatInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Ingo KurthCenter for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Ute FelborDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Matthias RathDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Germ-Line MutationHemangioma, Cavernous, Central Nervous SystemKRIT1 ProteinAdultFemaleFrameshift MutationHumansMalePedigreeWhole Genome SequencingKRIT1 ProteinKRIT1 protein, humanCerebral cavernous malformationInsertionStructural variantWhole genome sequencing

Identifiers

PMID40874960
PMCPMC12394346

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Registered trials

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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.