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.

Genetests:

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
NFIA

References:

1.

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

external link
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.

external link
3.

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

external link
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.

external link
5.

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

external link
6.

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

external link
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.

external link
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.

external link
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.

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

NCBI article

NCBI 4774 external link
14.

OMIM.ORG article

Omim 600727 external link
15.

Orphanet article

Orphanet ID 409843 external link
16.

Wikipedia article

Wikipedia EN (NFIA) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues