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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Author(s) -
Garde Aurore,
Cornaton Jenny,
Sorlin Arthur,
Moutton Sébastien,
Nicolas Claire,
Juif Christine,
Geneviève David,
Perrin Laurence,
KhauVanKien Philippe,
Smol Thomas,
VincentDelorme Catherine,
Isidor Bertrand,
Cogné Benjamin,
Afenjar Alexandra,
Keren Boris,
Coubes Christine,
Prieur Fabienne,
Toutain Annick,
Trousselet Yann,
Bourgouin Solène,
GoninOlympiade Coralie,
Giraudat Kim,
Piton Amélie,
Gérard Bénédicte,
Odent Sylvie,
Tessier Fanny,
Lemasson Lola,
Heide Solveig,
Gelineau AnneClaire,
Sarret Catherine,
Miret Anne,
Schaefer Elise,
Piard Juliette,
Mathevet Rémi,
Boucon Marion,
Bruel AngeLine,
MauThem Frederic Tran,
Chevarin Martin,
Vitobello Antonio,
Philippe Christophe,
ThauvinRobinet Christel,
Faivre Laurence
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13894
Subject(s) - neurocognitive , neuropsychology , autism spectrum disorder , autism , intellectual disability , cohort , phenotype , medicine , psychology , psychiatry , cognition , pediatrics , genetics , clinical psychology , biology , gene
White‐Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element‐derived protein with zinc finger domain ( 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. This study is based on a French collaboration through the AnDDI‐Rares network, and includes 19 patients from 18 families with POGZ pathogenic variants. All clinical data and neuropsychological tests were collected from medical files. Among the 19 patients, 14 patients exhibited ID (six mild, five moderate and three severe). The five remaining patients had learning disabilities and shared a similar neurocognitive profile, including language difficulties, dysexecutive syndrome, attention disorders, slowness, and social difficulties. One patient evaluated for autism was found to have moderate autism spectrum disorder. This study reveals that the cognitive phenotype of patients with POGZ pathogenic variants can range from learning disabilities to severe ID. It highlights that pathogenic variations in the same genes can be reported in a large spectrum of neurocognitive profiles, and that children with learning disabilities could benefit from next generation sequencing techniques.