Now that Jeff and I have been identified as carriers of a lethal genetic mutation, you may be wondering what this means about your genes. Some of you will also be carriers of this gene. At this point we have no information about which side of our family the gene came from, and currently no test exists to identify carriers. So what are the odds of you carrying the gene?
If one of our mutual grandparents was the carrier, then your parent has a 50% chance of having the gene. If they did inherit it, then there is a 50% chance that they passed it to you. If you inherited it, there is a 50% chance you will pass it on to your children. Because the gene is recessive, it will not affect you or your carrier children. The only way it becomes a problem is if you or your children marry someone who also carries the gene. If both parents carry the gene there is a 25% chance, for each pregnancy, of having a child born with short-rib polydactyly.
There is no way to tell if you carry the gene. However, even if you do it is very unlikely that you will marry another carrier, provided you avoid marrying your relatives, which you should probably do anyway. Research is being done at Cedars-Sinai Medical Center to identify the gene for short-rib polydactyly. We have been told that it is one of their most active research endeavors, and that they expect to identify the gene within five years, but possibly much sooner. At that point my parents will be tested to find out which one of them carries the gene. Based on that we can determine which side of the family this came from, and those who wish to can undergo testing.
Until we know which type of short-rib poydactyly Leah had, it is impossible to know the incidence rate and the rate of carriers in the general population. Our genetic counselor has indicated to us that all types are extremely rare, and that it is possible that outside of our relatives we do not know any other carriers. When we know more we will pass on the information.
If one of our mutual grandparents was the carrier, then your parent has a 50% chance of having the gene. If they did inherit it, then there is a 50% chance that they passed it to you. If you inherited it, there is a 50% chance you will pass it on to your children. Because the gene is recessive, it will not affect you or your carrier children. The only way it becomes a problem is if you or your children marry someone who also carries the gene. If both parents carry the gene there is a 25% chance, for each pregnancy, of having a child born with short-rib polydactyly.
There is no way to tell if you carry the gene. However, even if you do it is very unlikely that you will marry another carrier, provided you avoid marrying your relatives, which you should probably do anyway. Research is being done at Cedars-Sinai Medical Center to identify the gene for short-rib polydactyly. We have been told that it is one of their most active research endeavors, and that they expect to identify the gene within five years, but possibly much sooner. At that point my parents will be tested to find out which one of them carries the gene. Based on that we can determine which side of the family this came from, and those who wish to can undergo testing.
Until we know which type of short-rib poydactyly Leah had, it is impossible to know the incidence rate and the rate of carriers in the general population. Our genetic counselor has indicated to us that all types are extremely rare, and that it is possible that outside of our relatives we do not know any other carriers. When we know more we will pass on the information.
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