FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

doi:10.1002/ajmg.b.32970

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Article

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2024

Mazel Benoit, Delanne Julian, Garde Aurore, Racine Caroline, Bruel Ange-Line, Duffourd Yannis, Lopergolo Diego, Santorelli Filippo Maria, Marchi Viviana, Pinto Anna Maria, Mencarelli Maria Antonietta, Canitano Roberto, Valentino Floriana, Papa Filomena Tiziana, Fallerini Chiara, Mari Francesca, Renieri Alessandra, Munnich Arnold, Niclass Tanguy, Le Guyader Gwenaël, Thauvin-Robinet Christel, Philippe Christophe, Faivre Laurence

Abstract excerpt

Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next-generation sequencing (NGS) now enables unbiased diagnostics. Through the...

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PMID: 38459409
DOI: 10.1002/ajmg.b.32970

Genes

FOXG1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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