Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

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

Related Diseases:

Intellectual disability-severe speech delay-mild dysmorphism syndrome
FOXP1

References:

1.

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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2.

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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3.

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

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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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

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12.

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

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13.

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

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14.

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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Update: Sept. 26, 2018