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 …

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 …

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 …

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 …

[PDF][PDF] 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 …

[PDF][PDF] 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 …

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 …

FOXP Genes, Neural Development, Speech and Language Disorders

H Takahashi, K Takahashi, FC Liu - … factors: vital elements in biology and …, 2010 - Springer
Foxp subfamily genes were recently recognized to be members of the Fox gene family. Foxp
subfamily members contain a zinc finger domain and a leucine zipper motif in addition to a …

FOXP transcription factors in vertebrate brain development, function, and disorders

M Co, AG Anderson, G Konopka - Wiley Interdisciplinary …, 2020 - Wiley Online Library
FOXP transcription factors are an evolutionarily ancient protein subfamily coordinating the
development of several organ systems in the vertebrate body. Association of their genes …

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

E Sollis, P Deriziotis, H Saitsu, N Miyake… - Human …, 2017 - Wiley Online Library
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared
functions in the development of many tissues, including the brain. However, while mutations …