De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Audrey Schalk , Margot A Cousin , Nikita R Dsouza , Thomas D Challman , Karen E Wain , Zoe Powis , Kelly Minks , Aurélien Trimouille , Eulalie Lasseaux , Didier Lacombe , Chloé Angelini , Vincent Michaud , Julien Van-Gils , Nino Spataro , Anna Ruiz , Elizabeth Gabau , Elliot Stolerman , Camerun Washington , Ray Louie , Brendan C Lanpher , Jennifer L Kemppainen , Micheil Innes , Frank Kooy , Marije Meuwissen , Alice Goldenberg , Francois Lecoquierre , Gabriella Vera , Karin E M Diderich , Beth Sheidley , Christelle Moufawad El Achkar , Meredith Park , Fadi F Hamdan , Jacques L Michaud , Ann J Lewis , Christiane Zweier , André Reis , Matias Wagner , Heike Weigand , Hubert Journel , Boris Keren , Sandrine Passemard (1) , Cyril Mignot , Koen van Gassen , Eva H Brilstra , Gina Itzikowitz , Emily O'Heir , Jake Allen , Kirsten A Donald , Bruce Richard Korf , Tammi Skelton , Michelle Thompson , Nathaniel H Robin , Natasha L Rudy , William B Dobyns , Kimberly Foss , Yuri Alexander Zarate , Katherine A Bosanko , Yves Alembik , Benjamin Durand , Frederic Tran Mau-Them , Emmanuelle Ranza , Xavier Blanc , Stylianos E Antonarakis , Kirsty Mcwalter , Erin Torti , Francisca Millan , Amy Dameron , Mari Tokita , Michael T Zimmermann , Eric W Klee , Amélie Piton (2, 3) , Bénédicte Gerard

1 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
2 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
3 IGBMC - Institut de génétique et biologie moléculaire et cellulaire

High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).

Domaines: Génétique

Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, et al.. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.. Journal of Medical Genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩. ⟨hal-03697474⟩