Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Fiche publication
Date publication
août 2021
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick, Pr FAIVRE Laurence, Pr PHILIPPE Christophe, Pr VABRES Pierre, Mr DUFFOURD Yannis
Tous les auteurs :
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P
Lien Pubmed
Résumé
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI.
Mots clés
Humans, Hypopigmentation, genetics, Mechanistic Target of Rapamycin Complex 1, genetics, Megalencephaly, Mosaicism, Phenotype, TOR Serine-Threonine Kinases, genetics
Référence
Genet Med. 2021 08;23(8):1484-1491