There are many people who have no signs of ALPS, yet have a Fas mutation. Individuals with a Fas mutation have a 50/50 chance of passing the Fas mutation on to their children. That means that each child has a 50 percent chance of inheriting the unaffected gene and a 50 percent chance of inheriting the altered gene.
This chance is the same for each child. In other words, if you have 5 children and they have each inherited the Fas mutation, the sixth child still has the same 50/50 risk of inheriting the Fas mutation. Of the children who inherit the Fas mutation, approximately half of them will develop some features of ALPS.
This figure is based on the 98 people we have studied so far at NIH who have a Fas gene mutation. Of these 98 people with the Fas gene mutation, 48 have enough symptoms to be diagnosed with ALPS and additional persons have some features of ALPS. Children who have inherited the unaltered Fas gene have almost no chance of developing ALPS.
How to explain ALPS to ... more.
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