Clinical and neuroimaging findings in 33 ...
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
Clinical and neuroimaging findings in 33 patients with mcap syndrome: a survey to evaluate relevant endpoints for future clinical trials
Auteur(s) :
Garde, Aurore [Auteur]
Guibaud, Laurent [Auteur]
Goldenberg, Alice [Auteur]
Petit, Florence [Auteur]
Dard, Rodolphe [Auteur]
Roume, Joelle [Auteur]
Mazereeuw-Hautier, Juliette [Auteur]
Chassaing, Nicolas [Auteur]
Lacombe, Didier [Auteur]
Morice-Picard, Fanny [Auteur]
Toutain, Annick [Auteur]
Arpin, Stephanie [Auteur]
Boccara, Olivia [Auteur]
Touraine, Renaud [Auteur]
Blanchet, Patricia [Auteur]
Coubes, Christine [Auteur]
Willems, Marjolaine [Auteur]
Pinson, Lucile [Auteur]
Khau Van Kien, Philippe [Auteur]
Chiaverini, Christine [Auteur]
Giuliano, Fabienne [Auteur]
Alessandri, Jean-Luc [Auteur]
Mathieu-Dramard, Michele [Auteur]
Morin, Gilles [Auteur]
Bursztejn, Anne-Claire [Auteur]
Mignot, Cyril [Auteur]
Doummar, Diane [Auteur]
Di Rocco, Frederico [Auteur]
Cornaton, Jenny [Auteur]
Nicolas, Claire [Auteur]
Gautier, Elodie [Auteur]
Luu, Maxime [Auteur]
Bardou, Marc [Auteur]
Sorlin, Arthur [Auteur]
Philippe, Christophe [Auteur]
Edery, Patrick [Auteur]
Rossi, Massimiliano [Auteur]
Carmignac, Virginie [Auteur]
Thauvin-Robinet, Christel [Auteur]
Vabres, Pierre [Auteur]
Faivre, Laurence [Auteur]
Guibaud, Laurent [Auteur]
Goldenberg, Alice [Auteur]
Petit, Florence [Auteur]
Dard, Rodolphe [Auteur]
Roume, Joelle [Auteur]
Mazereeuw-Hautier, Juliette [Auteur]
Chassaing, Nicolas [Auteur]
Lacombe, Didier [Auteur]
Morice-Picard, Fanny [Auteur]
Toutain, Annick [Auteur]
Arpin, Stephanie [Auteur]
Boccara, Olivia [Auteur]
Touraine, Renaud [Auteur]
Blanchet, Patricia [Auteur]
Coubes, Christine [Auteur]
Willems, Marjolaine [Auteur]
Pinson, Lucile [Auteur]
Khau Van Kien, Philippe [Auteur]
Chiaverini, Christine [Auteur]
Giuliano, Fabienne [Auteur]
Alessandri, Jean-Luc [Auteur]
Mathieu-Dramard, Michele [Auteur]
Morin, Gilles [Auteur]
Bursztejn, Anne-Claire [Auteur]
Mignot, Cyril [Auteur]
Doummar, Diane [Auteur]
Di Rocco, Frederico [Auteur]
Cornaton, Jenny [Auteur]
Nicolas, Claire [Auteur]
Gautier, Elodie [Auteur]
Luu, Maxime [Auteur]
Bardou, Marc [Auteur]
Sorlin, Arthur [Auteur]
Philippe, Christophe [Auteur]
Edery, Patrick [Auteur]
Rossi, Massimiliano [Auteur]
Carmignac, Virginie [Auteur]
Thauvin-Robinet, Christel [Auteur]
Vabres, Pierre [Auteur]
Faivre, Laurence [Auteur]
Titre de la revue :
Clinical Genetics
Nom court de la revue :
Clin Genet
Date de publication :
2021-01-07
ISSN :
1399-0004
Mot(s)-clé(s) :
MCAP syndrome
clinical trial
PROS
PIK3CA
clinical trial
PROS
PIK3CA
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, ...
Lire la suite >Megalencephaly-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.Lire moins >
Lire la suite >Megalencephaly-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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:44Z