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 , Pr THAUVIN-ROBINET Christel

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

https://www.ncbi.nlm.nih.gov/pubmed/33415748

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.