Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials.
Fiche publication
Date publication
janvier 2021
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BARDOU Marc, Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Pr VABRES Pierre
Tous les auteurs :
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Khau Van Kien P, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L
Lien Pubmed
Résumé
Megalencephaly-CApillary malformation-Polymicrogyria 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.
Mots clés
MCAP syndrome, PIK3CA, PROS, clinical trial
Référence
Clin Genet. 2021 Jan 7;: