Fiche publication
Date publication
octobre 2025
Journal
Molecular autism
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BINQUET Christine
,
Pr CALLIER Patrick
,
Pr FAIVRE Laurence
,
Pr PHILIPPE Christophe
,
Dr NAMBOT Sophie
,
Mr DUFFOURD Yannis
,
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Viora-Dupont E, Delanne J, Garde A, Nambot S, Colin E, Bournez M, Fauconnier-Fatus C, Racine C, Simao De Souza C, Bernard C, Maurer A, Espitalier A, Binquet C, Bouctot M, Humbert ML, Briffaut AS, Darmency V, Plumet P, Cotinaud-Ricou A, Relin N, Callier P, Mosca-Boidron AL, Marle N, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Vitobello A, Philippe C, Duffourd Y, Bruel AL, Thauvin-Robinet C, Faivre L
Lien Pubmed
Résumé
Specific learning disorders (SLDs) affect approximately 5% of school-age children. In France, genetic investigations of complex non-syndromic SLD cases include chromosomal microarray analysis and fragile X syndrome testing. However, the examples of genes being described in intellectual disability or autism spectrum disorder and also reported in patients with complex and severe SLDs are multiplying. International efforts using exome sequencing have identified monogenic diseases that explain severe SLDs in some instances. The aim of our study was to investigate the value of exome sequencing in children with SLDs without intellectual disability and autism spectrum disorder.
Mots clés
Developmental language disorders, Exome sequencing, Neurodevelopmental disorders, Specific learning disorders
Référence
Mol Autism. 2025 10 30;16(1):54
