The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ., Zachariou A., Loveday C., Beleza-Meireles A., Bertoli M., Dean J., Douglas AGL., Ellis I., Foster A., Graham JM., Hague J., Hilhorst-Hofstee Y., Hoffer M., Johnson D., Josifova D., Kant SG., Kini U., Lachlan K., Lam W., Lees M., Lynch S., Maitz S., McKee S., Metcalfe K., Nathanson K., Ockeloen CW., Parker MJ., Pierson TM., Rahikkala E., Sanchez-Lara PA., Spano A., Van Maldergem L., Cole T., Douzgou S., Tatton-Brown K.
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