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Forkhead box protein P1

The FOXP1 gene encodes a transcription factor which plays an important role in the development of language and other intellectual abilities. Mutations cause autosomal dominant mental retardation with language impairment and with or without autistic features.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Intellectual disability-severe speech delay-mild dysmorphism syndrome



Hamdan FF et al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

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Feng X et al. (2010) Foxp1 is an essential transcriptional regulator for the generation of quiescent naive T cells during thymocyte development.

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Shi C et al. (2008) Down-regulation of the forkhead transcription factor Foxp1 is required for monocyte differentiation and macrophage function.

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Rousso DL et al. (2008) Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons.

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Hu H et al. (2006) Foxp1 is an essential transcriptional regulator of B cell development.

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Banham AH et al. (2005) Expression of the FOXP1 transcription factor is strongly associated with inferior survival in patients with diffuse large B-cell lymphoma.

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Streubel B et al. (2005) T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.

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Wang B et al. (2003) Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

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Banham AH et al. (2001) The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p.

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Li C et al. (1993) DNA-binding properties and secondary structural model of the hepatocyte nuclear factor 3/fork head domain.

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Sollis E et al. (2016) Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

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Srivastava S et al. (2014) Clinical whole exome sequencing in child neurology practice.

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Le Fevre AK et al. (2013) FOXP1 mutations cause intellectual disability and a recognizable phenotype.

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Carr CW et al. (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

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Orphanet article

Orphanet ID 201171 external link

NCBI article

NCBI 27086 external link

OMIM.ORG article

Omim 605515 external link

Wikipedia article

Wikipedia EN (FOXP1) external link
Update: Aug. 14, 2020
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