Popliteal pterygium syndrome of ... (popliteal pterygium syndrome) - Gen IRF6.

Popliteal pterygium syndrome is a disorder that affects the development of the face, skin and genitals. Most affected people born with cleft lip, cleft palate, or both. Affected individuals may have depressions near the center of the lower lip, which may appear wet due to the presence of salivary glands , and mucous. They can also be present small mounds of tissue in the lower lip. In some cases, people with popliteal pterygium syndrome have no teeth.

Other signs of the disease may include popliteal folds, syndactyly and pyramidal redundant skin on the nail of the big toe. In addition, affected individuals may have abnormal genitalia, including hypoplasia of the labia majora in women. Meanwhile, affected males may have cryptorchidism or scrotum bifida. People with popliteal pterygium syndrome with cleft lip and / or cleft palate, like other people with these facial conditions may have an increased risk of delayed language development, learning disabilities or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

This process is due to mutations in the gene IRF6, located on the long arm of chromosome 1 (1q32.3-q41). This gene encodes a protein transcription factor which plays an important role in early development. 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 gene responsible IRF6 popliteal pterygium syndrome may change the effects of the transcription factor in the activity of certain genes. This affects the development and maturation of the tissues of the face, skin and genitals, leading to facial and genital anomalies, syndactyly and other features observed in popliteal pterygium syndrome.

Popliteal pterygium syndrome 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 performed in IVAMI: in IVAMI perform detection of mutations associated with popliteal pterygium 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).