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Article

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

American journal of human genetics - 1 Jan 2005

Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau J J, Neau J P, Parker F, Tremoulet M, Tournier-Lasserve E

Abstract excerpt

Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and cerebral hemorrhages, which can result in focal neurological deficits. Three CCM loci have been mapped, and loss-of-function mutations were identified in the KRIT1 (CCM1) and MGC4607 (CCM2) genes. We report herein the...

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Source

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Identifiers

PMID: 15543491
DOI: 10.1086/426952
PMCID: PMC1196432

Genes

PDCD10
CCM2

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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