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Article

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.

Clinical genetics - 1 Dec 2014

Riant F, Odent S, Cecillon M, Pasquier L, de Baracé C, Carney M P, Tournier-Lasserve E

Abstract excerpt

Loss-of-function mutations in CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations (CCMs). However, genomic DNA sequencing combined to large rearrangement screening fails to detect a mutation in 5% of those cases. We report a family in which CCM lesions were discovered fortuitously because of the investigation of a...

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Source

Identifiers

PMID: 24251678
DOI: 10.1111/cge.12322

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.PMID 24251678Read ↗

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