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 …

Mice carrying a humanized Foxp2 knock-in allele show region-specific shifts of striatal Foxp2 expression levels

C Schreiweis, T Irinopoulou, B Vieth, L Laddada… - Cortex, 2019 - Elsevier
Genetic and clinical studies of speech and language disorders are providing starting points
to unravel underlying neurobiological mechanisms. The gene encoding the transcription …

The genetic basis of a severe speech and language disorder

SE Fisher - Neurosciences at the Postgenomic Era, 2003 - Springer
The KE family represent the only documented case of single-gene inheritance of a speech
and language disorder. There has been some debate over the specificity of their impairment …

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review

PA Lennon, ML Cooper, DA Peiffer… - American journal of …, 2007 - Wiley Online Library
We report on a young male with moderate mental retardation, dysmorphic features, and
language delay who is deleted for 7q31. 1‐7q31. 31. His full karyotype is 46, XY, der (7) del …

[PDF][PDF] Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

E Spiteri, G Konopka, G Coppola, J Bomar… - The American Journal of …, 2007 - cell.com
Mutations in FOXP2, a member of the forkhead family of transcription factor genes, are the
only known cause of developmental speech and language disorders in humans. To date …

[PDF][PDF] Human genetics: the evolving story of FOXP2

SE Fisher - Current Biology, 2019 - cell.com
Human Genetics: The Evolving Story of FOXP2 Page 1 7. Graybiel, AM, and Ragsdale, CW,
Jr. (1978). Histochemically distinct compartments in the striatum of human, monkeys, and …

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

TB Johnson, K Mechels, RH Anderson, JT Cain… - Scientific reports, 2018 - nature.com
Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription
factor, leads to developmental delay, intellectual disability, autism spectrum disorder …

FOXP3 gene variations and susceptibility to autism: a case–control study

MR Safari, S Ghafouri-Fard, R Noroozi, A Sayad… - Gene, 2017 - Elsevier
Abstract Autism Spectrum Disorders (ASD) are a group of heterogeneous
neurodevelopmental disorders associated with immune system dysregulation. There are …

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 …

Dissection of molecular mechanisms underlying speech and language disorders

SE Fisher - Applied Psycholinguistics, 2005 - cambridge.org
Developmental disorders affecting speech and language are highly heritable, but very little
is currently understood about the neuromolecular mechanisms that underlie these traits …