Instituto Valenciano de Microbiología
(IVAMI)

Masía El Romeral
Ctra. de Bétera a San Antonio Km. 0.3
46117 Bétera (Valencia)
Phone. 96 169 17 02
Fax 96 169 16 37
Email: 
www.ivami.com
CIF B-96337217

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Genetic Testing - Oculo-facio-cardio-dental syndrome ..., (Oculofaciocardiodental syndrome) - Gen BCOR.

Oculo-Facio-cardio-dental syndrome ... (Oculofaciocardiodental syndrome) - Gen BCOR.

Oculo-facio-cardio-dental syndrome (OFCD) is a disorder that affects the development of the eyes (oculo), facial features (facio), heart (cardio) and teeth (dental) and takes place only in women.

Ocular abnormalities associated with OFCD syndrome, can affect one or both eyes and may include microphthalmia, cataracts and increased risk of glaucoma. These abnormalities can cause loss of vision. Often people with OFCD syndrome have a long, narrow face with characteristic facial features, including sunken eyes and a broad nasal tip divided by a slit. Some people also have cleft palate. Regarding heart defects, affected infants may be born with a handset or ventricular septal defect or mitral valve prolapse. Meanwhile, dental abnormalities may include radiculomegalia, delayed loss of primary teeth, abnormally small or missing teeth, misaligned teeth and a defective tooth enamel.

This process is due to changes in the BCOR gene, located on the short arm of chromosome X (Xp11.4). This gene encodes a protein known as corepressor BCL6. This protein can not bind to DNA by itself but interacts with other DNA - binding proteins to suppress the activity of certain genes. In this case, the corepressor BCL6 is associated with DNA binding protein encoded from the BCL6 gene. The BCL6 gene plays an important role in the function and survival of certain immune system cells. The BCOR gene is active throughout the body, not only in the immune system. This widespread activity suggests that BCL6 co - repressor has other functions besides its interaction with BCL6 protein. The BCL6 co - repressor appears to play a critical role in early embryonic development, including the formation of the eyes and other tissues and organs. In addition, it is believed that the BCL6 co - repressor may also be involved in the specification of the left and right of the organism in the developing embryo sides.

Some of the mutations in the BCOR gene associated-dental-facio-cardio oculo syndrome (OFCD) remove large amounts of genetic material BCOR gene, whereas other mutations alter the instructions of the gene so that no corepressor protein BCL6 is encoded . A loss of this protein alters the normal development of the eyes and other organs and tissues before birth, which leads to the signs and symptoms of OFCD syndrome.

The OFCD syndrome occurs exclusively in women. This disease has a dominant inheritance pattern X - linked, meaning that an altered copy of the gene in every cell BCOR is sufficient to express the disease. Genetic changes that underlie OFCD syndrome inhibit BCL6 co - repressor protein coding. In males, who have only one X chromosome in each cell, these mutations lead to a total loss of BCL6 co - repressor. Deficiency of this protein appears to be lethal in early development, so there are no men who are born with OFCD syndrome. In females, having two X chromosomes in each cell, some cells encode a normal amount of BCL6 co - repressor protein while others yield no.

Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome oculo-facio-cardio-dental (OFCD), by complete PCR amplification of exons BCOR 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).