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Maria Margarida Venancio

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Articles

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

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By Molly Godfrey, Michael Levy, Christopher Campbell, Leigh A.M. Demain, Sarah Jenkinson, Sarah Hilton Verified, Berta Almoguera, Meena Balasubramanian, Emilia K. Bijlsma, Fiona Blanco-Kelly, Emma Wright, Gerarda Cappuccio, Kate Chandler, Koen Devriendt, Maria K. Haanpää, Elizabeth Jones, Sinem Kocagil, Dhanya Lakshmi Narayanan, Emanuela Leonardi, Rajesh Madhu, Purvi Majethia, Alessandra Murgia, Elisabeth Rosser, Markus Schuelke, Anju Shukla, Sarah Stewart, Yves Sznajer, Saoud Tahsin Swafiri, Renzo Guerrini, Annalisa Vetro, Thomas Wright, David Gokhale, Bekim Sadikovic, Sofia Douzgou Houge, Siddharth Banka, Aranzazu Diaz de Bustamante, Carolin Hörnig, Hannele Koillinen, Emma Soengas-Gonda, Maria Margarida Venancio, Martino Montomoli
| Nature Verified
Abstract Pathogenic CHD8 variants cause autosomal dominant ‘Intellectual developmental disorder with autism and macrocephaly’ (IDDAM) and are amongst the most common monogenic causes of autism. The clinical significance of CHD8 missense variants (MVs) frequently remains uncertain. Systematically applying ACGS/ACMG guidelines to 36 CHD8 MVs in 39 affected patients, only two variants were classified likely pathogenic (LP), with the remaining 34 classified variants of uncertain significance (VUS).
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