Article
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2022
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
Abstract excerpt
PURPOSE: Germline loss-of-function variants in CTNNB1 cause 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 CTNNB1 to determine the association between NEDSDV and CP. METHODS: Genetic information from 404 individuals with...
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