Unique presentation of a novel gain-of-function mutation in MTOR  

作　　者：Samira Slimani Alex G.I.Gagnon Simon V.Schreiber Nicolas A.D.Bergeron Ludwig Haydock Sebastien Labonte Marc-Etienne Huot Alexandre P.Garneau Paul Isenring 

机构地区：[1]Centre de recherche du CHU de Quebec at the L'Hotel-Dieu de Quebec,Services de nephrologie,pathologie et cancerologie,Departement de medecine,Universite Laval,Quebec G1R 2J6,Canada [2]Service de Nephrologie-Transplantation Renale Adultes,Hopital Necker-Enfants Malades,AP-HP,Inserm U1151,Universite Paris Cité,rue de Sevres,Paris 75015,France [3]Service de Nephrologie-Transplantation Renale Adultes,Hopital Necker-Enfants Malades,AP-HP,Inserm U1151,Universite Paris Citeé,rue de Sevres,Paris 75015,France

出　　处：《Genes & Diseases》2025年第2期4-6,共3页基因与疾病(英文)

摘　　要：Smith-Kingsmore syndrome(SKS)is a very rare dominantly inherited disorder caused by a gain-of-function mutation in MTOR(mechanistic target of rapamycin).1,2 It is typically characterized by megalencephaly,developmental and intellectual delay,and distinctive facial traits.Attenuated SKS-like phenotypes from a somatic gain-of-function mutation in MTOR have also been reported.

关 键 词：FACIAL FUNCTION typically 

分 类 号：R73[医药卫生—肿瘤]