Article
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019
Ostrowski Philip J, Zachariou Anna, Loveday Chey, Beleza-Meireles Ana, Bertoli Marta, Dean John, Douglas Andrew G L, Ellis Ian, Foster Alison, Graham John M, Hague Jennifer, Hilhorst-Hofstee Yvonne, Hoffer Mariette, Johnson Diana, Josifova Dragana, Kant Sarina G, Kini Usha, Lachlan Katherine, Lam Wayne, Lees Melissa, Lynch Sally, Maitz Silvia, McKee Shane, Metcalfe Kay, Nathanson Katherine, Ockeloen Charlotte W, Parker Michael J, Pierson Tyler M, Rahikkala Elisa, Sanchez-Lara Pedro A, Spano Alice, Van Maldergem Lionel, Cole Trevor, Douzgou Sofia, Tatton-Brown Katrina
Abstract excerpt
CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogenic or likely pathogenic CHD8 variants (25 null variants, two missense variants) and a male:female ratio of 21:6 (3.5:1, p < .01). All patients presented with intellectual disability, with 85% in the...
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