학술논문
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1variants
Document Type
Article
Author
Kayumi, Sayaka; Pérez-Jurado, Luis A.; Palomares, María; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; García-Miñaúr, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P.A.; Sinnema, Margje; Stevens, Servi C.J.; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
Source
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
Subject
Language
ISSN
10983600; 15300366
Abstract
Germline loss-of-function variants in CTNNB1cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the range of clinical phenotypes owing to disruptions of CTNNB1to determine the association between NEDSDV and CP.