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Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3.

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

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  • 1Service de Génétique Neuro-Vasculaire, Assistance Publique-Hôpitaux de Paris, Paris, France ; Centre de Référence des Maladies Vasculaires Rares du Cerveau et de L'Œil, Groupe Hospitalier Lariboisière - Fernand Widal, Paris, France ; Unité Mixte de Recherche-S-740, Institut National de la Santé et de la Recherche Médicale, Paris, France ; Unité Mixte de Recherche-S-740, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

Abstract

Mutations of CCM3/PDCD10 cause 10-15% of hereditary cerebral cavernous malformations. The phenotypic characterization of CCM3-mutated patients has been hampered by the limited number of patients harboring a mutation in this gene. This is the first report on molecular and clinical features of a large cohort of CCM3 patients. Molecular screening for point mutations and deletions was used to identify 54 CCM3-mutated index patients. Age at referral and clinical onset, type of inaugural events and presence of extra-axial lesions were investigated in these 54 index patients and 22 of their mutated relatives. Mean age at clinical onset was 23.0 ± 16 years. Clinical onset occurred before 10 years in 26% of the patients, and cerebral hemorrhage was the initial presentation in 72% of these patients. Multiple extra-axial, dural-based lesions were detected in 7 unrelated patients. These lesions proved to be meningiomas in 3 patients who underwent neurosurgery and pathological examination. This 'multiple meningiomas' phenotype is not associated with a specific CCM3 mutation. Hence, CCM3 mutations are associated with a high risk of early-onset cerebral hemorrhage and with the presence of multiple meningiomas.

KEYWORDS:

CCM; CCM1; CCM2; Cavernous angioma; KRIT1; Meningioma; PDCD10

PMID:
23801932
[PubMed]
PMCID:
PMC3666455
Free PMC Article
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