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

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CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. / Riant, F; Bergametti, F; Fournier, H-D; Chapon, F; Michalak-Provost, S; Cecillon, M; Lejeune, P; Hosseini, H; Choe, C; Orth, M; Bernreuther, C; Boulday, G; Denier, C; Labauge, P; Tournier-Lasserve, E.

in: MOL SYNDROMOL, Jahrgang 4, Nr. 4, 01.04.2013, S. 165-72.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Riant, F, Bergametti, F, Fournier, H-D, Chapon, F, Michalak-Provost, S, Cecillon, M, Lejeune, P, Hosseini, H, Choe, C, Orth, M, Bernreuther, C, Boulday, G, Denier, C, Labauge, P & Tournier-Lasserve, E 2013, 'CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas', MOL SYNDROMOL, Jg. 4, Nr. 4, S. 165-72. https://doi.org/10.1159/000350042

APA

Riant, F., Bergametti, F., Fournier, H-D., Chapon, F., Michalak-Provost, S., Cecillon, M., Lejeune, P., Hosseini, H., Choe, C., Orth, M., Bernreuther, C., Boulday, G., Denier, C., Labauge, P., & Tournier-Lasserve, E. (2013). CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. MOL SYNDROMOL, 4(4), 165-72. https://doi.org/10.1159/000350042

Vancouver

Riant F, Bergametti F, Fournier H-D, Chapon F, Michalak-Provost S, Cecillon M et al. CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. MOL SYNDROMOL. 2013 Apr 1;4(4):165-72. https://doi.org/10.1159/000350042

Bibtex

@article{08a3132797c34ad5a7a082b9ebfb3e83,
title = "CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas",
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.",
author = "F Riant and F Bergametti and H-D Fournier and F Chapon and S Michalak-Provost and M Cecillon and P Lejeune and H Hosseini and C Choe and M Orth and C Bernreuther and G Boulday and C Denier and P Labauge and E Tournier-Lasserve",
year = "2013",
month = apr,
day = "1",
doi = "10.1159/000350042",
language = "English",
volume = "4",
pages = "165--72",
journal = "MOL SYNDROMOL",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "4",

}

RIS

TY - JOUR

T1 - CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

AU - Riant, F

AU - Bergametti, F

AU - Fournier, H-D

AU - Chapon, F

AU - Michalak-Provost, S

AU - Cecillon, M

AU - Lejeune, P

AU - Hosseini, H

AU - Choe, C

AU - Orth, M

AU - Bernreuther, C

AU - Boulday, G

AU - Denier, C

AU - Labauge, P

AU - Tournier-Lasserve, E

PY - 2013/4/1

Y1 - 2013/4/1

N2 - 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.

AB - 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.

U2 - 10.1159/000350042

DO - 10.1159/000350042

M3 - SCORING: Journal article

C2 - 23801932

VL - 4

SP - 165

EP - 172

JO - MOL SYNDROMOL

JF - MOL SYNDROMOL

SN - 1661-8769

IS - 4

ER -