Genetic mutations: Pallister-Hall syndrome (PHS) is caused by mutations or defects in the GLI3 gene. This gene provides instructions for making the GLI3 protein (also known as zinc finger protein GLI3). This protein plays a role in regulating gene expression, meaning that it helps determine whether certain genes are turned on or off in certain cells so that they either produce the protein they should or not. Gene expression affects the development of many organs before birth. When the GLI3 protein is functioning normally, it can regulate its own gene, so it will either stop producing the protein or make more, depending on the body's needs. When a mutated GLI3 gene causes an abnormally short GLI3 protein to be made, the protein can only turn certain genes off. It is not yet clear how this mutation directly causes the symptoms associated with PHS.
Autosomal dominant inheritance: PHS is inherited or passed down among families as an autosomal dominant trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to occur, only one defective copy of the GLI3 gene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.
Random occurrence: Some cases of PHS occur in individuals with no family history of the condition. This may be the result of a spontaneous genetic mutation in the egg, sperm cells, or developing embryo.
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