Pallister-Hall syndrome ... (Pallister-Hall syndrome) - Gen GLI3
Syndrome Pallister-Hall (PHS) is a process that affects the development of many parts of the body. Signs and symptoms frequently in affected individuals may include polydactyly and syndactyly skin; hypothalamic hamartoma which can lead to seizures or hormonal abnormalities that may endanger life in childhood; epiglottis bifida; imperforate anus; and kidney abnormalities. Although the signs and symptoms of this process vary from mild to severe, only a small percentage of those affected have serious complications.
This process is due to mutations in the GLI3 (GLI family zinc finger 3) gene, located on the short arm of chromosome 7 (7p14.1), which encodes the synthesis of GLI proteins that control gene expression, and therefore intervene growth, cell specialization, brain structure and limb. GLI proteins family act in the same molecular pathway that Sonic Hedgehog. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal formation of many organs and tissues before birth.
They described over 40 mutations in the gene responsible for the development of GLI3 Pallister-Hall syndrome of. Most of the identified mutations occur near the center of the gene, creating a premature stop signal in coding the GLI3 protein. As a result, cells lead to the synthesis of an unusually short version of the protein. Unlike GLI3 full length protein which can enable or disable the target genes, the short protein can only suppress the expression of target genes. Although this change clearly alters embryonic development, it is not clear how the altered function of the protein GLI3 results in the various signs and symptoms of Pallister-Hall syndrome.
Syndrome Pallister-Hall is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to express the alteration. In some cases, an affected person inherits a mutation in the gene GLI3 an affected parent. Other cases are due to new mutations in the gene and occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Pallister-Hall syndrome, by complete PCR amplification of the exons of the GLI3 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).