Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nuclear factor 1 A-type

The NFIA gene encodes a transcription factor. Mutations were observed in brain malformations with urinary tract defects.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Brain malformations with urinary tract defects
NFIA

References:

1.

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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2.

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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3.

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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4.

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

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5.

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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6.

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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7.

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

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8.

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

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9.

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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10.

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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11.

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

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12.

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

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Update: Sept. 26, 2018