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Article

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Molecular autism - 30 Oct 2025

Viora-Dupont Eléonore, Delanne Julian, Garde Aurore, Nambot Sophie, Colin Estelle, Bournez Marie, Fauconnier-Fatus Clémence, Racine Caroline, Simao De Souza Clément, Bernard Céline, Maurer Agnès, Espitalier Aurélie, Binquet Christine, Bouctot Marion, Humbert Marie-Laure, Briffaut Anne-Sophie, Darmency Véronique, Plumet Patricia, Cotinaud-Ricou Audrey, Relin Noémie, Callier Patrick, Mosca-Boidron Anne-Laure, Marle Nathalie, Tran Mau-Them Frederic, Denommé-Pichon Anne-Sophie, Safraou Hana, Vitobello Antonio, Philippe Christophe, Duffourd Yannis, Bruel Ange-Line, Thauvin-Robinet Christel, Faivre Laurence

Abstract excerpt

BACKGROUND: 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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41168819
DOI: 10.1186/s13229-025-00688-8
PMCID: PMC12574064

Genes

ADNP
BRAF
CREBBP
KCNN2
KIF1A
SCN8A
SET
SMARCC2
TRIO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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