Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Fiche publication

Date publication

juillet 2026

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Pr PHILIPPE Christophe

Tous les auteurs :
Nijim S, Kim M, Denish M, Gonzalez MV, Zinski J, Rieubland C, Braun D, Ostergaard E, Shillington A, Faivre L, Maraval J, Garde A, Philippe C, Tran-Mau-Them F, Crunk A, ,Hawley M, Callewaert B, Iascone M, Cereda A, Daolio C, Hershkovitz T, Good JM, Steindl K, Frey T, Rauch A, Afenjar A, Mignot C, de Sainte Agathe JM, den Hollander N, Hilhorst-Hofstee Y, Koene S, Santen G, Bijlsma EK, Berger S, Mehta L, Stoeva R, Houdayer C, Gueguen P, Faust H, Specht S, Klabunde-Cherwon A, Khelifa MM, Bergmann A, Saunders C, Krygier M, Carrasco D, Metcalfe K, Sanders SJ, Zhang DY, Judy R, Nijim W, Exposito-Alonso D, Deng CX, Kim J, Gecz J, Romano C, Skinner C, Lichty A, Linebaugh E, Skinner SA, Chahrour M, Wang T, Xia K, Guo H, Van Daele S, Van Goethem G, Fagerberg C, Graakjaer J, Anders S, Fink H, Ward DI, Grange DK, Strong A, Zwijnenburg P, Towne M, Feichtinger RG, Morrison J, Dagli A, Levy J, Capri Y, Spillman RC, Hart S, Shashi V, Keren B, Kleefstra T, Pfundt R, Gilissen C, Eichler EE, Brugger M, Zech M, Chung WK, Fasolino M, Dow HC, Rader DJ, Brodkin ES, Bucan M, Marsh ED, Dias C, Fajgenbaum DC

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/42417140

Résumé

TCF7L2 (OMIM:602228; HGNC:11641) is a transcription factor and critical effector of the Wnt/β-Catenin pathway. In 2021, 11 pediatric patients with mono-allelic predicted loss-of-function (pLOF) TCF7L2 variants and syndromic features were observed. Characterization of patients with pLOF TCF7L2 variants and neurodevelopmental features - herein referred to as TCF7L2-related neurodevelopmental disorder (TRND) - is urgently needed.