Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Adolescent
Adult
Autism Spectrum Disorder
/ genetics
Child
Child, Preschool
Cohort Studies
Developmental Disabilities
/ genetics
Female
France
Genetic Predisposition to Disease
Genetic Variation
Humans
Intellectual Disability
/ genetics
Male
Mutation
Neurocognitive Disorders
/ genetics
Neuropsychological Tests
Phenotype
Transposases
/ genetics
Young Adult
POGZ
White-Sutton syndrome
intellectual disability
learning disabilities
neurocognitive profile
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
24
08
2020
revised:
01
12
2020
accepted:
02
12
2020
pubmed:
6
12
2020
medline:
1
1
2022
entrez:
5
12
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
POGZ protein, human
0
Transposases
EC 2.7.7.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
407-417Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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