Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Nuclear factor 1 A-type

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


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

Related Diseases:

Brain malformations with urinary tract defects



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

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

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

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

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

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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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NCBI article

NCBI 4774 external link

OMIM.ORG article

Omim 600727 external link

Orphanet article

Orphanet ID 409843 external link

Wikipedia article

Wikipedia EN (NFIA) external link
Update: Aug. 14, 2020
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