Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Date publication

décembre 2020

Journal

Clinical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Pr PHILIPPE Christophe , Pr THAUVIN-ROBINET Christel

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

https://www.ncbi.nlm.nih.gov/pubmed/33277917

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;: