Van der Woude syndrome ... (Van der Woude Syndrome) - Gen IRF6.

The Van der Woude syndrome is a disorder that affects the development of the face. Many people with this disorder are born with cleft lip or cleft, palate or both. People usually have concavities near the center of the lower lip, which may seem damp due to the presence of salivary and mucous glands. They can also be present small excrescences on the lower lip. In some cases, people with Van der Woude syndrome have no teeth.

People with van der Woude syndrome with cleft lip and / or cleft palate, like other people with these facial abnormalities, are more likely to delay in language development, learning disabilities or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from the general population.

This process is due to mutations in the gene IRF6, located on the long arm of chromosome 1 (1q32.3-q41), which encodes a protein that plays an important role in the initial development to be a transcription factor that binds specific DNA regions to control the expression of some genes. The IRF6 protein is active in cells that give rise to tissues of the head and face. It is also involved in the development of other parts of the body including the skin and genitals.

Mutations in the IRF6 gene causing Van der Woude syndrome, prevent the synthesis of the corresponding functional protein, and consequently the development and maturation of the tissues in the face is affected, causing the signs and symptoms of the syndrome van der Woude.

This condition is inherited as an autosomal dominant, which means that the existence of a copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has a parent with the disease. Sometimes an individual with a copy of the altered gene does not show any signs or symptoms of the disease.

Tests performed in IVAMI: in IVAMI perform detection of mutations associated with Van der Woude syndrome, by complete PCR amplification of the gene exons IRF6, 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).