Article
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics - 1 Jun 2024
de Masfrand Servane, Cogné Benjamin, Nizon Mathilde, Deb Wallid, Goldenberg Alice, Lecoquierre François, Nicolas Gaël, Bournez Marie, Vitobello Antonio, Mau-Them Frédéric Tran, le Guyader Gwenaël, Bilan Frédéric, Bauer Peter, Zweier Christiane, Piard Juliette, Pasquier Laurent, Bézieau Stéphane, Gerard Bénédicte, Faivre Laurence, Saugier-Veber Pascale, Piton Amélie, Isidor Bertrand
Abstract excerpt
PURPOSE: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of complete penetrance. METHOD: From 2020 to 2022, we proposed a collaboration study with the French molecular diagnosis for intellectual disability network. The aim was to recruit families for whom...
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