Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Fiche publication
Date publication
mars 2024
Journal
European journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B
Lien Pubmed
Résumé
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.
Mots clés
Incomplete penetrance, Intellectual disability, Monogenic, Neurodevelopmental disorder
Référence
Eur J Med Genet. 2024 03 5;:104932