Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Nukleärer Faktor NFIA

Das NFIA-Gen kodiert einen Transkriptionsfaktor. Mutationen sind bei Fehlbildungen des Gehirns und des Urogenitalsystems gesehen worden.

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

Verknüpfte Erkrankungen:

Hirnmalformation mit Urogenitaldefekten
NFIA

Referenzen:

1.

Campbell CG et al. (2002) Interstitial microdeletion of chromosome 1p in two siblings.

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2.

Shanske AL et al. (2004) Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.

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3.

Lu W et al. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

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4.

Rao A et al. (2014) An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

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5.

Nyboe D et al. (2015) Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

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6.

Negishi Y et al. (2015) Truncating mutation in NFIA causes brain malformation and urinary tract defects.

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7.

Qian F et al. (1995) Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.

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8.

das Neves L et al. (1999) Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.

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9.

Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

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10.

Gründer A et al. (2003) Genomic organization, splice products and mouse chromosomal localization of genes for transcription factor Nuclear Factor One.

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11.

Deneen B et al. (2006) The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord.

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12.

Rosa A et al. (2007) The interplay between the master transcription factor PU.1 and miR-424 regulates human monocyte/macrophage differentiation.

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13.

NCBI article

NCBI 4774 external link
14.

OMIM.ORG article

Omim 600727 external link
15.

Orphanet article

Orphanet ID 409843 external link
Update: 14. August 2020
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