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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

dc.rights.licenseopenen_US
dc.contributor.authorGARDE, Aurore
dc.contributor.authorGUIBAUD, Laurent
dc.contributor.authorGOLDENBERG, Alice
dc.contributor.authorPETIT, Florence
dc.contributor.authorDARD, Rodolphe
dc.contributor.authorROUME, Joelle
dc.contributor.authorMAZEREEUW-HAUTIER, Juliette
dc.contributor.authorCHASSAING, Nicolas
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorTOUTAIN, Annick
dc.contributor.authorARPIN, Stephanie
dc.contributor.authorBOCCARA, Olivia
dc.contributor.authorTOURAINE, Renaud
dc.contributor.authorBLANCHET, Patricia
dc.contributor.authorCOUBES, Christine
dc.contributor.authorWILLEMS, Marjolaine
dc.contributor.authorPINSON, Lucile
dc.contributor.authorVAN KIEN, Philippe Khau
dc.contributor.authorCHIAVERINI, Christine
dc.contributor.authorGIULIANO, Fabienne
dc.contributor.authorALESSANDRI, Jean-Luc
dc.contributor.authorMATHIEU-DRAMARD, Michele
dc.contributor.authorMORIN, Gilles
dc.contributor.authorBURSZTEJN, Anne-Claire
dc.contributor.authorMIGNOT, Cyril
dc.contributor.authorDOUMMAR, Diane
dc.contributor.authorDI ROCCO, Frederico
dc.contributor.authorCORNATON, Jenny
dc.contributor.authorNICOLAS, Claire
dc.contributor.authorGAUTIER, Elodie.
dc.contributor.authorLUU, Maxime
dc.contributor.authorBARDOU, Marc
dc.contributor.authorSORLIN, Arthur
dc.contributor.authorPHILIPPE, Christophe
dc.contributor.authorEDERY, Patrick
dc.contributor.authorROSSI, Massimiliano
dc.contributor.authorCARMIGNAC, Virginie
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorVABRES, Pierre
dc.contributor.authorFAIVRE, Laurence
dc.date.accessioned2021-10-26T13:38:28Z
dc.date.available2021-10-26T13:38:28Z
dc.date.issued2021-01-07
dc.identifier.issn0009-9163 (print) 1399-0004 (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/113327
dc.description.abstractEnMegalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 patients. The main clinical features reported were macrocephaly at birth (20/31), postnatal macrocephaly (31/32), body/facial asymmetry (21/33), cutaneous capillary malformations (naevus flammeus 28/33, cutis marmorata 17/33). Intellectual disability was present in 15 patients. Among the MRI images reviewed, the neuroimaging findings were megalencephaly (20/21), thickening of corpus callosum (16/21), Chiari malformation (12/21), ventriculomegaly/hydrocephaly (10/21), cerebral asymmetry (6/21) and polymicrogyria (2/21). This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient.
dc.language.isoENen_US
dc.subject.enClinical trial
dc.subject.enMCAP syndrome
dc.subject.enPIK3CA
dc.subject.enPROS
dc.title.enClinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/cge.13918en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed33415748en_US
bordeaux.journalClinical Geneticsen_US
bordeaux.page650-661en_US
bordeaux.volume99en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03404308
hal.version1
hal.date.transferred2021-10-26T13:38:33Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical%20Genetics&rft.date=2021-01-07&rft.volume=99&rft.issue=5&rft.spage=650-661&rft.epage=650-661&rft.eissn=0009-9163%20(print)%201399-0004%20(online)&rft.issn=0009-9163%20(print)%201399-0004%20(online)&rft.au=GARDE,%20Aurore&GUIBAUD,%20Laurent&GOLDENBERG,%20Alice&PETIT,%20Florence&DARD,%20Rodolphe&rft.genre=article


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