Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
FOXP1

Referenzen:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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

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9.

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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10.

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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11.

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

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12.

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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13.

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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14.

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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15.

Orphanet article

Orphanet ID 201171 [^]
16.

NCBI article

NCBI 27086 [^]
17.

OMIM.ORG article

Omim 605515 [^]
Update: 9. Mai 2019