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Article

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

European journal of human genetics : EJHG - 1 Dec 2015

Lozano Reymundo, Vino Arianna, Lozano Cristina, Fisher Simon E, Deriziotis Pelagia

Abstract excerpt

FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language deficits. We report on a female child with a history of severe hypotonia, autism spectrum disorder and mild intellectual...

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Source

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Identifiers

PMID: 25853299
DOI: 10.1038/ejhg.2015.66
PMCID: PMC4795189

Genes

FOXP1

Variants

Provenance

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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