Forkhead-box-Protein P1
Das FOXP1-Gen kodiert einen Transkriptionsfaktor, der insbesondere für die geistige und Sprachentwicklung von Bedeutung zu sein scheint. Mutationen führen zu autosomal dominanter geistiger Retardierung mit Sprachstörungen und möglichen autistischen Merkmalen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hamdan FF et al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
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2. |
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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3. |
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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4. |
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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5. |
Hu H et al. (2006) Foxp1 is an essential transcriptional regulator of B cell development.
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6. |
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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7. |
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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8. |
Wang B et al. (2003) Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.
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9. |
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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10. |
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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11. |
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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12. |
Srivastava S et al. (2014) Clinical whole exome sequencing in child neurology practice.
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13. |
Le Fevre AK et al. (2013) FOXP1 mutations cause intellectual disability and a recognizable phenotype.
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14. |
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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15. |
Orphanet article
Orphanet ID 201171
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16. |
NCBI article
NCBI 27086
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17. |
OMIM.ORG article
Omim 605515
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Update: 14. August 2020