Iridodisgenesia type 1 (Iridogoniodysgenesis type 1) - FOXC1 gene.

Type 1 iridodisgenesia is an alteration affecting mainly the anterior eye segment and associated with underdevelopment of the iris and a high risk of glaucoma. The iridodisgenesia Type 1 is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma.

This process is due to mutations in the FOXC1 gene, located on the short arm of chromosome 6 (6p25). This gene encodes a protein that binds to specific regions of DNA and regulates the activity of other genes. The FOXC1 protein plays a critical role in early development, particularly in the formation of structures in the anterior segment of the eye. These structures include the iris, the eye lens and the cornea. In addition, it is likely that FOXC1 protein may have functions in the adult eye, such as helping cells respond to oxidative stress. This protein is also involved in the normal development of other parts of the body, including the heart, kidneys and brain.

Mutations in the gene FOXC1 FOXC1 reduce the amount of functional protein is encoded or result in a defective protein that can not regulate the activity of other genes. Other genetic changes, as a FOXC1 gene duplication probably increase the amount or function of the protein FOXC1. Having an excess or a deficiency of this protein altered activity of regulating other genes required for normal development. Changes in the amount or function of the protein FOXC1 impair the development of the anterior eye segment, leading to ocular abnormalities characteristic of type 1 iridodisgenesia.

This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient for the disease to be expressed.

Tests in IVAMI: in IVAMI perform detection of mutations associated with iridodisgenesia type 1 by PCR amplification of complete exons FOXC1 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).