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, Vol. 4, No. 4, 01.04.2013, p. 165-72.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -