Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Fiche publication
Date publication
décembre 2020
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr PHILIPPE Christophe
Tous les auteurs :
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogne B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Tran Mau-Them F, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L
Lien Pubmed
Résumé
White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic POGZ variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ pathogenic variants.
Mots clés
Intellectual disability (ID), POGZ, White-Sutton syndrome, learning disabilities, neurocognitive profile
Référence
Clin Genet. 2020 Dec 5;: