Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
FOXP1

Referenzen:

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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