[HTML][HTML] Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple …

L Snijders Blok, A Vino, J Den Hoed, HR Underhill… - Genetics in …, 2021 - nature.com
Purpose Heterozygous pathogenic variants in various FOXP genes cause specific
developmental disorders. The phenotype associated with heterozygous variants in FOXP4 …

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

E Sollis, SA Graham, A Vino, H Froehlich… - Human molecular …, 2016 - academic.oup.com
De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare
cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related …

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

R Lozano, A Vino, C Lozano, SE Fisher… - European journal of …, 2015 - nature.com
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 …

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

MS Reuter, A Riess, U Moog, TA Briggs… - Journal of medical …, 2017 - jmg.bmj.com
Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are
the first known monogenic cause of a speech and language disorder. So far, mainly …

[HTML][HTML] Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

SB Estruch, SA Graham, SM Chinnappa… - Journal of …, 2016 - Springer
Background Heterozygous disruption of FOXP2 causes a rare form of speech and language
impairment. Screens of the FOXP2 sequence in individuals with speech/language-related …

[HTML][HTML] Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

M Benvenuto, P Palumbo, E Di Muro, CS Perrotta… - Genes, 2023 - mdpi.com
The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3,
and FOXP4, all with important roles in regulating gene expression from early development …

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

A Myers, C du Souich, CL Yang… - American Journal of …, 2017 - Wiley Online Library
The forkhead box (FOX) transcription factors have roles in development, carcinogenesis,
metabolism, and immunity. In humans FOXP1 mutations have been associated with …

[HTML][HTML] The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

C Bacon, GA Rappold - Human genetics, 2012 - Springer
Rare disruptions of FOXP2 have been strongly implicated in deficits in language
development. Research over the past decade has suggested a role in the formation of …

[HTML][HTML] De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

FF Hamdan, H Daoud, D Rochefort, A Piton… - The American Journal of …, 2010 - cell.com
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …

[HTML][HTML] Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

KD MacDermot, E Bonora, N Sykes, AM Coupe… - The American Journal of …, 2005 - cell.com
FOXP2, the first gene to have been implicated in a developmental communication disorder,
offers a unique entry point into neuromolecular mechanisms influencing human speech and …