Diagnostics and Therapeutics for Hydrocephalus

Congenital hydrocephalus is a significant public health problem, affecting approximately one in 500 live births in the United States. Congenital hydrocephalus has an adverse effect on developing brain and may persist as neurological defects in children and adults. Some of these defects may manifest as mental retardation, cerebral palsy, epilepsy and visual disabilities. Improved diagnostics are needed for assessing the risks of developing this debilitating disease.

The inventors have shown that RFX4_v3, a splice variant of the Regulatory Factor X4 (RFX4) transcription factor, is associated with the development of neurological structures. The reduction or absence of RFX4_v3 promotes the development of congenital hydrocephalus. This invention describes RFX4_v3 polypeptides and nucleic acids, as well as methods for detection of RFX4_v3 polymorphisms associated with congenital hydrocephalus. Also described are treatment methods including the RFX4_v3 polypeptide and RFX4_v3 transgenic animals and antibodies.

Potential Commercial Applications: Competitive Advantages:
  • Prenatal diagnostic assay for identifying children at risk for congenital hydrocephalus
  • Genotyping assay for congenital hydrocephalus

Development Stage:
In vitro data are available.


Perry Blackshear (NIEHS)  ➽ more inventions...

Darryl Zeldin (NIEHS)  ➽ more inventions...

Joan Graves (NIEHS)  ➽ more inventions...

Deborah Stumpo (NIEHS)  ➽ more inventions...

Intellectual Property:
PCT Application No. 10/511,362 filed on 2004-10-15

Perry J. Blackshear et al. Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4. Development. 2003 Oct;130(19):4539-4552. PubMed abs
Donghui Zhang et al. Identification of potential target genes for RFX4_v3, a transcription factor critical for brain development. J Neurochem. 2006 Aug;98(3):860-875. PubMed abs
Donghui Zhang et al. Regulatory factor X4 variant 3 (RFX4_v3): a transcription factor involved in brain development and disease. Submitted for publication, Journal of Neuroscience Research.

Licensing Contact:
Vidita Choudhry, Ph.D.
Email: vidita.choudhry@nih.gov
Phone: 301-594-4095

OTT Reference No: E-163-2002-2
Updated: Jun 14, 2010