Article
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Journal of medical genetics - 1 May 2022
Tan Natalie B, Pagnamenta Alistair T, Ferla Matteo P, Gadian Jonathan, Chung Brian Hy, Chan Marcus Cy, Fung Jasmine Lf, Cook Edwin, Guter Stephen, Boschann Felix, Heinen Andre, Schallner Jens, Mignot Cyril, Keren Boris, Whalen Sandra, Sarret Catherine, Mittag Dana, Demmer Laurie, Stapleton Rachel, Saida Ken, Matsumoto Naomichi, Miyake Noriko, Sheffer Ruth, Mor-Shaked Hagar, Barnett Christopher P, Byrne Alicia B, Scott Hamish S, Kraus Alison, Cappuccio Gerarda, Brunetti-Pierri Nicola, Iorio Raffaele, Di Dato Fabiola, Pais Lynn S, Yeung Alison, Tan Tiong Y, Taylor Jenny C, Christodoulou John, White Susan M
Abstract excerpt
PURPOSE: Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently reported in one individual with developmental delay/intellectual disability (DD/ID) and dysmorphism. We aim to confirm GNB2 as a neurodevelopmental disease gene, and...
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